ABCC9, ABCG5, ABCG8: These are genes for cell guards that move cholesterol, bile acids, and drugs around your body. Mutations can mess up this job and lead to health problems.

ACTA1 & ACTA2: Genes that encode alpha-actin isoforms, essential structural proteins within skeletal and smooth muscle cells, respectively. Mutations in these genes can lead to a variety of myopathies (muscle diseases) by disrupting proper muscle function.

ACTC1: This gene encodes alpha-cardiac actin, a specific type of actin found in heart muscle cells. Mutations in ACTC1 can disrupt cardiac muscle function and contribute to cardiomyopathy (heart muscle disease).

ACTN2: This gene encodes alpha-actinin-2, a protein that links actin filaments within muscle cells, playing a role in muscle contraction and force generation. Mutations in ACTN2 can affect muscle function and performance, though the specific effects can vary.

AKAP9: This gene encodes a protein that acts as a scaffold, anchoring other signalling proteins within cells. Mutations in AKAP9 have been linked to some neurological disorders, but the exact mechanisms are still being investigated.

ALMS1: This gene encodes a protein involved in the development and function of the inner ear. Mutations in ALMS1 can cause Alport syndrome, a genetic disorder characterized by progressive hearing loss, kidney problems, and eye abnormalities.

ANK2 & ANKRD1: These genes encode proteins containing ankyrin repeats, which are protein domains involved in protein-protein interactions. Mutations in these genes can have various effects depending on the specific protein and its function. Their roles in cancer and other diseases are still being investigated.

APOA4 & APOA5: These genes encode apolipoproteins, which are proteins that bind to lipids (fats) like cholesterol and triglycerides in the bloodstream. They play a crucial role in transporting lipids throughout the body.

APOB: This gene encodes apolipoprotein B, the main protein component of low-density lipoprotein (LDL), often called "bad cholesterol." LDL transports cholesterol to tissues, and high LDL levels contribute to atherosclerosis. Mutations in APOB can increase LDL levels and cardiovascular risk.

APOC2 (Apolipoprotein C2): This gene encodes apolipoprotein C2, a protein component of lipoproteins. APOC2 plays a role in regulating triglyceride levels. Mutations in APOC2 can influence blood fat levels and contribute to an increased risk of heart disease in some cases, although the exact mechanisms are still being investigated.

APOE (Apolipoprotein E): This gene encodes apolipoprotein E (ApoE), another crucial protein component of lipoproteins. ApoE plays a vital role in cholesterol transport and metabolism.

BAG3 (BCL2-Associated Athanogeen 3): This gene encodes a protein involved in various cellular processes, including protein folding, stress response, and apoptosis (programmed cell death). Mutations in BAG3 are not well understood but have been linked to some cancers, although the specific mechanisms are still being investigated.

BRAF (V-raf murine sarcoma viral oncogene homolog B1): This gene encodes a protein called BRAF, which is a key player in the MAPK (mitogen-activated protein kinase) signalling pathway, which regulates cell growth, proliferation, and differentiation. Mutations in BRAF, particularly a mutation called V600E, are common drivers of various cancers, including melanoma (skin cancer), colorectal cancer, and some types of lung cancer. Drugs targeting BRAF mutations have become important therapeutic options for these cancers

CACNA1C (Calcium Voltage-Gated Channel Subunit Alpha 1C): This gene encodes a subunit of a voltage-gated calcium channel. These channels are critical for regulating calcium influx into cells, which plays a role in various cellular processes, including muscle contraction, nerve signalling, and hormone release. Mutations in CACNA1C can disrupt calcium signalling and contribute to various neurological disorders, including Timothy syndrome (characterized by cardiac malformations, long QT syndrome, and autism spectrum disorder).

CACNA2D1 (Calcium Voltage-Gated Channel Auxiliary Subunit Delta 1): This gene encodes a protein that acts as an auxiliary subunit of voltage-gated calcium channels. These auxiliary subunits modulate the function of the main channel protein. Mutations in CACNA2D1 can also disrupt calcium signalling and have been linked to some neurological disorders, including epilepsy and migraine, although the specific mechanisms are still being elucidated.

CACNB2 (Calcium Voltage-Gated Channel Auxiliary Subunit Beta 2): Like CACNA2D1, this gene encodes another auxiliary subunit of voltage-gated calcium channels. Mutations in CACNB2 can also disrupt calcium signalling and contribute to various neurological disorders, including episodic ataxia type 2 (characterized by episodes of loss of coordination) and spinocerebellar ataxia type 11 (a neurodegenerative disorder affecting movement and coordination).

CALM1 (Calmodulin 1): This gene, already described previously, encodes calmodulin, a ubiquitous calcium-binding protein. Calmodulin acts as a calcium sensor in cells, and upon binding calcium, it activates or regulates various other proteins involved in numerous cellular processes, including muscle contraction, cell signalling, and enzyme activity.

CALR3 (Calreticulin 3): This gene encodes calreticulin, another calcium-binding protein located in the endoplasmic reticulum (ER), a cellular compartment involved in protein folding and quality control. Calreticulin plays a role in protein folding, calcium homeostasis, and signalling pathways. Mutations in CALR3 are not well understood but have been associated with some rare genetic disorders, potentially affecting protein processing in the ER.

CASQ2 (Calsequestrin 2): This gene encodes a calcium-binding protein located in the sarcoplasmic reticulum (SR) of muscle cells. The SR is a specialized ER that stores calcium for muscle contraction. CASQ2 plays a critical role in storing and releasing calcium within muscle cells. Mutations in CASQ2 can disrupt calcium handling and contribute to various muscle disorders, including catecholaminergic polymorphic ventricular tachycardia (CPVT), a heart rhythm disorder.

CAV3 (Caveolin 3): This gene encodes caveolin-3, a protein that is a major component of caveolae, small invaginations (pockets) in the cell membrane. Caveolae are involved in various cellular processes, including cholesterol transport, signal transduction, and endocytosis (cellular uptake of substances). Mutations in CAV3 can disrupt caveolae function and have been linked to some muscular dystrophies and limb-girdle muscular weakness.

CB2 (Cannabinoid Receptor 2): This gene encodes the cannabinoid receptor 2 (CB2), a G protein-coupled receptor (GPCR) located primarily on immune cells. CB2 receptors bind to cannabinoids, including the psychoactive compound THC found in marijuana. However, unlike the CB1 receptor found in the nervous system, CB2 activation is not associated with psychoactive effects. CB2 receptors play a role in immune regulation and inflammation. Mutations in CB2 are rare but could potentially affect immune function.

CBL (CBL Proto-Oncogene Like): This gene encodes a protein called CBL, which acts as a tumour suppressor. CBL is involved in regulating the activity of various signalling pathways that control cell growth, proliferation, and survival. Mutations in CBL can disrupt its tumour suppressor function and contribute to the development of certain cancers, particularly leukaemia and some types of lung cancer.

CETP (Cholesteryl Ester Transfer Protein): This gene encodes cholesteryl ester transfer protein (CETP), an enzyme that plays a crucial role in cholesterol metabolism. CETP transfers cholesterol esters between lipoproteins in the bloodstream. Mutations in CETP can affect cholesterol levels. Some variations in CETP have been associated with a lower risk of heart disease, and drugs that inhibit CETP are being investigated as potential therapies for high cholesterol.

COL3A1 (Collagen Type III Alpha 1 Chain): This gene encodes type III collagen, a major structural protein found in connective tissues throughout the body, including skin, blood vessels, and muscles. Mutations in COL3A1 can disrupt collagen structure and function, leading to Ehlers-Danlos syndrome type IV, a genetic disorder characterized by loose joints, hypermobility, and fragile skin.

COL5A1 & COL5A2 (Collagen Type V Alpha 1 & 2 Chains): These genes encode the two chains that form type V collagen, another structural protein found in connective tissues, particularly in the basement membrane, a specialized layer underlying epithelial tissues. Mutations in either gene can disrupt type V collagen function and contribute to Ehlers-Danlos syndrome type I, a genetic disorder characterized by loose joints, hypermobility, and fragile skin.

COX15 (Cytochrome C Oxidase Subunit 15): This gene encodes a subunit of cytochrome c oxidase, a key enzyme complex in the mitochondrial electron transport chain. The electron transport chain is essential for cellular respiration, the process by which cells generate energy (ATP). Mutations in COX15 can impair mitochondrial function and contribute to mitochondrial diseases, a group of disorders characterized by a variety of symptoms depending on the affected tissues.

CREB3L3 (CREB Binding Protein 3 Like 3): This is not a well-established biomarker yet. The CREB3L3 protein interacts with other proteins involved in cell growth and differentiation, but its specific role in disease is not fully understood. More research is needed to determine if CREB3L3 has potential as a biomarker.

CRELD1 (Cysteine Rich With EGF Like Domains 1): Similar to CREB3L3, CRELD1 is a protein with limited understanding in the context of biomarkers. While it interacts with proteins involved in cell adhesion and migration, its role in disease development and potential as a biomarker require further investigation.

CRYAB (Crystallin Beta A): This protein is a major component of the eye lens, and mutations in CRYAB can cause cataracts. However, CRYAB is not typically used as a biomarker itself. Cataract diagnosis is usually based on visual examination and imaging techniques.

CSRP3 (Cysteine and Glycine Rich Protein 3): CSRP3 is a protein with unknown function. While it's found in various tissues, its role in health and disease is not well-characterized. Therefore, CSRP3 is not currently used as a biomarker.

CTF1 (Chromosome Transmission Fidelity 1): This protein plays a role in DNA replication and chromosome segregation during cell division. Mutations in CTF1 can disrupt these processes and contribute to chromosomal instability, which is a hallmark of cancer. However, CTF1 is not routinely used as a biomarker for cancer diagnosis. Genetic testing for specific mutations or other approaches are usually employed for cancer diagnosis.

DES (Desmin): Desmin is a protein that forms intermediate filaments, which provide structural support within muscle cells. Mutations in the DES gene can cause various desminopathies, a group of muscle disorders. While DES testing can be used to diagnose desminopathies in some cases, it's not a general biomarker for muscle diseases.

DMD (Dystrophin): Dystrophin is a large protein that plays a critical role in maintaining muscle integrity. Mutations in the DMD gene cause Duchenne muscular dystrophy (DMD), a progressive muscle wasting disorder. DMD testing is a well-established diagnostic tool for DMD.

DNAJC19 (DnaJ Heat Shock Protein 19): This protein is a co-chaperone involved in protein folding and degradation within cells. Mutations in DNAJC19 have been linked to Parkinson's disease, but its utility as a biomarker is still under investigation. More research is needed to determine if DNAJC19 testing can be used for diagnosing or monitoring Parkinson's disease.

DOLK (Dolichol Kinase): Dolichol kinase is an enzyme involved in the synthesis of N-glycans, which are sugar chains attached to proteins. Mutations in DOLK can cause a rare genetic disorder called congenital disorder of glycosylation type Ik (CDG-Ik), characterized by various neurological and developmental problems. DOLK testing can be used to diagnose CDG-Ik, but it's not a general biomarker for other conditions.

DPP6 (Dipeptidyl Peptidase 6): This enzyme is involved in the metabolism of various peptides (short chains of amino acids). Mutations in DPP6 are associated with a rare genetic disorder called trichohepatoenteric syndrome (THES), characterized by diarrhoea, intestinal malabsorption, and sparse hair. DPP6 testing can be used to diagnose THES, but it's not a general biomarker for other conditions.

DSC2 (Desmocollin 2): Desmocollin 2 is a protein involved in cell adhesion, particularly in the skin. Mutations in DSC2 can cause a blistering skin disorder called autosomal recessive amelogenesis imperfecta (AR-AI), which affects tooth enamel development. DSC2 testing can be used to diagnose AR-AI, but it's not a general biomarker for other skin conditions.

DSG2 (Desmoglein 2): This gene encodes desmoglein-2, a protein that plays a crucial role in cell adhesion, particularly in the skin and heart. Desmoglein-2 helps connect cells together to form strong, cohesive tissues. Mutations in DSG2 can disrupt cell adhesion and contribute to various genetic disorders.

SP (Desmoplakin): This gene encodes desmoplakin, another protein involved in cell adhesion. Desmoplakin acts as a linker protein, connecting desmosomal cadherins (like DSG2) to the intermediate filament network within cells, providing strong adhesion between cells. Mutations in DSP can also disrupt cell adhesion and lead to similar disorders as DSG2 mutations, including AR-AI, palmoplantar keratoderma, and certain types of cardiomyopathy.

DTNA (Dystrophin alpha): This gene encodes dystrophin, the same protein discussed previously for DMD. Mutations in DTNA cause Duchenne muscular dystrophy (DMD), a progressive muscle wasting disorder. DTNA testing is a well-established diagnostic tool for DMD.

EFEMP2 (EGF-Containing Fibrillin-Like Extracellular Matrix Protein 2): This gene encodes a protein found in the extracellular matrix, a network of proteins and sugars that provides support and structure to tissues. EFEMP2 plays a role in cell adhesion, migration, and development. Mutations in EFEMP2 can contribute to various disorders.

ELN (Elastin): This gene encodes elastin, a protein that provides elasticity and flexibility to various tissues, particularly in the lungs, blood vessels, and skin. Mutations in ELN can disrupt elastin function and contribute to supravalvular aortic stenosis (SVAS) and Williams-Beuren Syndrome.

MD (Emerin): This gene encodes emerin, a protein located in the inner nuclear membrane (nuclear envelope) of cells. Emerin plays a role in nuclear structure and function. Mutations in EMD can cause Emery-Dreifuss muscular dystrophy (EDMD), a progressive muscle wasting disorder that also affects the heart and other tissues.

EYA4 (EYA Transcriptional Coactivator and Partner of SIX Family Members 4): This gene encodes a protein involved in various developmental processes, particularly development of the eyes, ears, and kidneys. Mutations in EYA4 can cause various branchiootorenal (BOR) syndromes, a group of disorders affecting these organ systems. Symptoms can vary depending on the specific mutation but may include hearing loss, kidney malformations, and eye defects.

FBN1 (Fibrillin-1): This gene encodes fibrillin-1, a major structural protein in the extracellular matrix. Fibrillin-1 forms microfibrils, which provide scaffolding and support for various tissues, particularly in the lungs, heart, and skin. Mutations in FBN1 cause Marfan syndrome.

FBN2 (Fibrillin-2): This gene encodes fibrillin-2, another protein found in the extracellular matrix. While like FBN1, FBN2 is expressed in a more limited set of tissues. Mutations in FBN2 can cause congenital contractual arachnodactyly (CCA), a connective tissue disorder with features that overlap with Marfan syndrome but are typically less severe.

FHL1 & FHL2 (Four and a Half LIM Domains 1 & 2): FHL1 and FHL2 are genes that code for proteins that act like assistants in muscle cells. They help other proteins function properly, particularly during muscle development and repair. Mutations in FHL1 might be linked to muscle disorders.

FKRP (Fukutin-Related Protein): This gene encodes a protein involved in glycosylation, the process of adding sugar chains to proteins. Mutations in FKRP can disrupt glycosylation and contribute to a form of Limb-Girdle Muscular Dystrophy type 2K (LGMD2K), a progressive muscle wasting disorder.

FKTN (Fkbp15-Associating Protein): This gene encodes a protein that interacts with another protein called FKBP15. FKBP15 is involved in regulating various cellular processes, including signal transduction and protein folding. Mutations in FKTN are rare, and their impact on health is not fully understood. More research is needed to determine if FKTN mutations contribute to any specific diseases.

FXN (Frataxin): This gene encodes frataxin, a protein essential for iron metabolism within mitochondria, the cell's energy powerhouses. Mutations in FXN cause Friedreich's ataxia, a neurodegenerative disorder affecting the nervous system, heart, and muscles.

GAA (Lysosomal Alpha-Glucosidase A): This gene encodes the enzyme lysosomal alpha-glucosidase A, which breaks down glycogen, a form of stored sugar, within lysosomes (cellular compartments for waste disposal). Mutations in GAA cause Pompe disease, a lysosomal storage disorder characterized by progressive muscle weakness and respiratory problems.

GATAD1 (Galactosyltransferase-activating Protein 6 Like): This gene encodes a protein involved in a specific type of glycosylation. Mutations in GATAD1 are rare, and their association with any diseases is not well-established. More research is needed to understand its role in health and disease.

GCKR (Glucocorticoid Receptor Kinase): This gene encodes a protein that regulates the activity of the glucocorticoid receptor, a protein involved in the response to stress hormones like cortisol. Mutations in GCKR are rare, and their impact on health is not fully understood. Further research is needed to determine if they contribute to any specific conditions.

GJAS (Gap Junction Alpha-12): This gene encodes a protein that forms gap junctions, channels that allow communication between neighbouring cells. Mutations in GJAS can disrupt cell communication and have been linked to a rare neurologic disorder called Charcot-Marie-Tooth disease type X (CMTX), characterized by progressive weakness and loss of sensation in the hands and feet.

GLA (Lysosomal Alpha-Galactosidase A): This gene encodes the enzyme lysosomal alpha-galactosidase A, which breaks down a specific type of sugar molecule within lysosomes. Mutations in GLA cause Fabry disease, another lysosomal storage disorder affecting various organs, including the skin, kidneys, heart, and nervous system.

GPD1L (Glycerol-3-Phosphate Dehydrogenase 1 Like): This gene encodes a protein with a similar structure to glycerol-3-phosphate dehydrogenase 1, an enzyme involved in energy metabolism. However, the exact function of the GPD1L protein is not fully understood. Mutations in GPD1L are rare, and their association with any specific diseases is not established. More research is required.

GPIHBP1 (Glycosylphosphatidylinositol-Anchored High-Molecular-Weight Bone Glycoprotein 1): This gene encodes a protein anchored to the cell membrane by a glycosylphosphatidylinositol (GPI) anchor. The function of this protein is not fully understood, and mutations in GPIHBP1 are rare. More research is needed to determine if they play a role in any diseases.

HADHA (Hydroxyacyl-Coenzyme A Dehydrogenase Trifunctional Multienzyme Complex Subunit Alpha): This gene encodes a subunit of a multi-enzyme complex involved in fatty acid metabolism within mitochondria. Mutations in HADHA can disrupt fatty acid breakdown and contribute to various mitochondrial disorders, presenting with a variety of symptoms depending on the affected tissues.

HCN4 (Hyperpolarization-activated Cyclic Nucleotide Gated Potassium Channel 4): This gene encodes a protein that forms ion channels in the heart. These channels are involved in regulating the electrical activity of the heart. Mutations in HCN4 can disrupt heart rhythm and contribute to certain types of arrhythmias (irregular heartbeats).

HFE (Hemochromatosis Gene): This gene encodes a protein involved in iron regulation within the body. Mutations in HFE can lead to hemochromatosis, a condition where iron accumulates in excess in various organs, potentially damaging them.

HRAS (Harvey Rat Sarcoma Viral Oncogene Homolog): This gene encodes a protein called HRAS, which is involved in various cellular processes, including cell growth, proliferation, and differentiation.

HSPB8 (Heat Shock Protein Beta-8): This gene encodes a protein called heat shock protein beta-8 (HSPB8). HSPB8 is a chaperone protein, which helps other proteins fold properly and prevents them from misfolding and aggregating. Mutations in HSPB8 are rare, and their impact on health is not fully understood. More research is needed to determine if they contribute to any specific diseases.

ILK (Integrin-Linked Kinase): This gene encodes a protein called integrin-linked kinase (ILK). ILK plays a crucial role in cell adhesion, migration, and survival. It acts as a signalling molecule at focal adhesions, which are attachment points between cells and the extracellular matrix (the network of proteins and sugars that provides support and structure to tissues). Mutations in ILK can disrupt cell adhesion and have been linked to some cancers, although the specific mechanisms are still being investigated.

JAG1 (Jagged 1): This gene encodes a protein called Jagged1, which is a ligand (signalling molecule) for Notch receptors. Notch signalling is a critical pathway involved in various developmental processes, including cell fate determination, differentiation, and proliferation. Mutations in JAG1 can disrupt Notch signalling and contribute to various developmental disorders, such as Alagille syndrome, characterized by malformations of the heart, liver, and other organs.JPH2 (Junctional Phareochromia Susceptibility 2): This gene encodes a protein involved in chromaffin cell development. Chromaffin cells are neuroendocrine cells located in the adrenal glands that produce hormones like adrenaline and noradrenaline. Mutations in JPH2 can disrupt chromaffin cell development and increase the risk of a rare tumour called pheochromocytoma, which arises from these cells.

JUP (Junctional Plakoglobin): This gene encodes a protein called junctional plakoglobin (JUP). JUP is a component of desmosomes, structures that mediate cell-cell adhesion in epithelial tissues (tissues that cover the surface of the body and line organs). Mutations in JUP can disrupt cell adhesion and contribute to a skin blistering disorder called epidermolysis bullosa simplex (EBS).

KCNA5, KCND3, KCNE1-3, KCNH2, KCNJ2, KCNJ5, KCNJ8: These all encode various subunits of potassium channels. Potassium channels are essential for regulating the flow of potassium ions across cell membranes. This plays a critical role in various cellular processes, including nerve impulses, muscle contraction, and heartbeat. Mutations in these genes can disrupt potassium channel function and contribute to various channelopathies, which are diseases caused by dysfunction of ion channels.

KCNQ1 (Potassium Voltage-Gated Channel Subfamily Q Member 1): This gene encodes a subunit of voltage-gated potassium channels in the nervous system and inner ear. These channels are critical for regulating nerve impulses and hearing function. Mutations in KCNQ1 can disrupt potassium channel function and contribute to various neurological disorders including benign familial neonatal seizures, and mesial temporal lobe epilepsy.

KLF10 (Kruppel-Like Factor 10): This gene encodes a protein that acts as a transcription factor, regulating the expression of other genes. KLF10 plays a role in various cellular processes, including cell differentiation, proliferation, and survival. Mutations in KLF10 are rare, and their impact on health is not fully understood. More research is needed to determine if they contribute to any specific diseases.

KRAS (Kirsten Rat Sarcoma Viral Oncogene Homolog): We previously discussed HRAS. Here's a quick recap for KRAS: This gene encodes a protein called KRAS, which is another member of the RAS protein family involved in various cellular processes, including cell growth, proliferation, and differentiation. Mutations in KRAS are among the most common genetic alterations in various cancers, including colorectal cancer, lung cancer, and pancreatic cancer. KRAS mutations can promote uncontrolled cell growth and contribute to tumour development.

LAMA2 & LAMA4 (Laminin Subunit Alpha 2 & 4): These genes encode subunits of laminin, a major protein component of the basement membrane, a specialized layer underlying epithelial tissues. Laminins provide structural support and regulate cell adhesion, migration, and differentiation. Mutations in LAMA2 or LAMA4 can disrupt basement membrane function and contribute to various genetic disorders, including: junctional epidermolysis bullosa (JEB), and hereditary nephronophthisis (HNPH)

LAMP2 (Lysosomal Associated Membrane Protein 2): This gene encodes a protein called lysosomal-associated membrane protein 2 (LAMP2). LAMP2 is found on the membrane of lysosomes, cellular compartments that break down waste materials and recycle cellular components. Mutations in LAMP2 can disrupt lysosomal function and contribute to Danon disease, a rare inherited disorder affecting the heart, skeletal muscles, and eyes.

LDB3 (Lim Domain Binding 3): This gene encodes a protein involved in various cellular processes, including cell adhesion, migration, and development. Mutations in LDB3 are rare, and their impact on health is not fully understood. More research is needed to determine if they contribute to any specific diseases.

LDLR (Low-Density Lipoprotein Receptor): This gene encodes the low-density lipoprotein (LDL) receptor, a protein on the surface of liver cells that plays a crucial role in cholesterol metabolism. LDLs are often referred to as "bad cholesterol" because they transport cholesterol particles throughout the body. The LDL receptor removes LDLs from the bloodstream, helping to maintain healthy cholesterol levels. Mutations in LDLR can impair LDL clearance and contribute to familial hypercholesterolemia, a condition characterized by high LDL cholesterol levels, which increases the risk of atherosclerosis (plaque buildup in arteries) and heart disease.

LDLRAP1 (LDL Receptor Adapter Protein 1): This gene encodes a protein that acts as an adaptor molecule, facilitating the interaction between the LDL receptor and other proteins involved in LDL uptake. Mutations in LDLRAP1 can also disrupt LDL clearance and contribute to familial hypercholesterolemia.

LMF1 (Lipopolysaccharide Mediated Factor 1): This gene encodes a protein involved in the immune response. LMF1 is produced by immune cells and plays a role in inflammatory processes. Mutations in LMF1 are rare, and their impact on health is not fully understood. More research is needed to determine if they contribute to any specific diseases.

LMNA (Lamin A/C): We previously discussed LMNA. Here's a quick summary: This gene encodes Lamin A/C, a protein that forms part of the nuclear lamina, a meshwork lining the inside of the nucleus that provides structural support and plays a role in gene expression. Mutations in LMNA can disrupt nuclear function and cause various genetic disorders, including some types of muscular dystrophy and premature aging syndromes like progeria. Mutations in LMNA can also contribute to heart Problems.

LPL (Lipoprotein Lipase): This gene encodes lipoprotein lipase (LPL), an enzyme attached to the walls of blood vessels in various tissues, particularly muscle and fat. LPL plays a crucial role in cholesterol metabolism. It breaks down triglycerides (a type of fat) carried by lipoproteins (particles that transport cholesterol in the bloodstream). Mutations in LPL can impair triglyceride breakdown and contribute to familial chylomicronaemia type I and high triglyceride.

LTBP2 (Latent TGF-β Binding Protein 2): This gene encodes a protein called latent TGF-β binding protein 2 (LTBP2). LTBP2 helps store and regulate the activity of transforming growth factor-β (TGF-β), a signalling molecule involved in various cellular processes, including cell growth, differentiation, and development. Mutations in LTBP2 are rare, and their impact on health is not fully understood. More research is needed to determine if they contribute to any specific diseases.

MAP2K1 & MAP2K2 (Mitogen-Activated Protein Kinase 1 & 2): These genes encode proteins called MAP2K1 (also known as MEK1) and MAP2K2 (also known as MEK2). They are part of the MAP kinase signalling pathway, a critical pathway involved in various cellular processes, including cell growth, proliferation, differentiation, and survival. Mutations in MAP2K1 or MAP2K2 can disrupt this pathway and contribute to various cancers, although the specific role of these mutations in cancer development is still being investigated.

MIB1 (Mind Bomb Homolog 1): This gene encodes a protein involved in endocytosis, the process by which cells take up substances from the outside. Mutations in MIB1 are rare, and their impact on health is not fully understood. More research is needed to determine if they contribute to any specific diseases.

MURC (Muclin 1): This gene encodes a protein called muclin 1, which is found in the endoplasmic reticulum (ER), a cellular compartment involved in protein folding and quality control. Muclin 1 interacts with other proteins and may play a role in protein folding and trafficking within the ER. Mutations in MURC can disrupt ER function and contribute to a rare genetic disorder called Schimke immunoosseous dysplasia type 1 (SIOD1), characterized by bone problems, stunted growth, and kidney abnormalities.

MYBPC3 (Myosin Binding Protein C, Fast Skeletal Muscle): This gene encodes a protein called myosin binding protein C (MyBPC3), which is found in fast-twitch skeletal muscle fibres. MyBPC3 helps stabilize the thick filaments within muscle sarcomeres (contractile units) and regulates muscle contraction. Mutations in MYBPC3 can disrupt muscle function and contribute to various skeletal muscle disorders, including hypertrophic cardiomyopathy (HCM), and distal myopathy with rimmed vacuoles (DMRV).

MYH11 (Myosin Heavy Chain 11, Skeletal Muscle, Fast Twitch Fibers): This gene encodes a protein called myosin heavy chain 11 (MYH11), which is the major component of the thick filaments within fast-twitch skeletal muscle fibres. MYH11 plays a crucial role in muscle contraction. Mutations in MYH11 can disrupt muscle function and contribute to various skeletal muscle disorders.

MYH6 (Myosin Heavy Chain 6, Cardiac Muscle): This gene encodes a protein called myosin heavy chain 6 (MYH6), the major component of the thick filaments within cardiac muscle cells. MYH6 plays a crucial role in heart contraction. Mutations in MYH6 can disrupt heart function and contribute to various cardiomyopathies.

MYH7 (Myosin Heavy Chain 7, Cardiac Muscle): This gene encodes a protein called myosin heavy chain 7 (MYH7), another component of the thick filaments within cardiac muscle cells. MYH7 works alongside MYH6 (discussed previously) for proper heart contraction. Mutations in MYH7 can disrupt heart function and contribute to various cardiomyopathies.

MYL2 (Myosin Light Chain 2, Regulatory, Smooth Muscle): This gene encodes a protein called myosin light chain 2 (MYL2), which is found in smooth muscle tissues (muscles lining various organs). MYL2 regulates muscle contraction in smooth muscle by interacting with myosin and other proteins. Mutations in MYL2 are rare, and their impact on health is not fully understood. More research is needed to determine if they contribute to any specific diseases.

MYL3 (Myosin Light Chain 3, Regulatory, Skeletal Muscle, Fast Twitch Fibers): This gene encodes a protein called myosin light chain 3 (MYL3), which is found in fast-twitch skeletal muscle fibres. MYL3, like MYL2, regulates muscle contraction by interacting with myosin and other proteins. Mutations in MYL3 can disrupt muscle function and contribute to various skeletal muscle disorders

MYLK (Myosin Light Chain Kinase): This gene encodes a protein called myosin light chain kinase (MYLK). MYLK phosphorylates (adds a phosphate group) MYL2 and other myosin light chain isoforms, which is a critical step for regulating muscle contraction in both smooth and skeletal muscle. Mutations in MYLK are rare, and their impact on health is not fully understood. More research is needed to determine if they contribute to any specific diseases.

MYLK2 (Myosin Light Chain Kinase 2): This gene encodes another protein called myosin light chain kinase 2 (MYLK2). MYLK2 is similar to MYLK but has a more restricted expression pattern. Mutations in MYLK2 are rare, and their impact on health is not fully understood. More research is needed to determine if they contribute to any specific diseases.

MYO6 (Myosin VI): This gene encodes a protein called myosin VI, an unconventional myosin motor protein. Unlike the myosin-heavy chains discussed previously, myosin VI does not directly participate in muscle contraction. Instead, it plays a role in various cellular processes, including intracellular trafficking and organelle movement. Mutations in MYO6 can disrupt these processes and contribute to a rare autosomal recessive disorder called deafness-ocular albinism-ocular motor apraxia (DOA), characterized by hearing loss, albinism (reduced pigment production), and problems with eye movement.

MYOZ2 (Myozenin 2): This gene encodes a protein called myozenin 2, a transcription factor involved in muscle development and regeneration. Myozenin 2 regulates the expression of other genes essential for muscle function. Mutations in MYOZ2 are rare, and their impact on health is not fully understood. More research is needed to determine if they contribute to any specific diseases.

MYPN (Myopalladin): This gene encodes a protein called myopalladin, which is found in Z-discs, structures within muscle sarcomeres that anchor thin filaments. Myopalladin plays a role in maintaining sarcomere structure and function. Mutations in MYPN can disrupt sarcomere integrity and contribute to various skeletal muscle disorders,

NEXN (Nexilin): This gene encodes a protein called nexilin, which is found in the extracellular matrix surrounding muscle cells. Nexilin interacts with other proteins and may play a role in cell adhesion and signalling in muscle development and function. Mutations in NEXN are rare, and their impact on health is not fully understood. More research is needed to determine if they contribute to any specific diseases.

NKX2-5 (Sodium/Potassium-Exchanging Neurotrophic Factor 2.5): This gene encodes a protein called NKX2-5, a transcription factor essential for the development and function of specific types of neurons in the lungs and the brainstem. NKX2-5 regulates the expression of other genes involved in lung development and the control of breathing. Mutations in NKX2-5 can disrupt these processes and contribute to various conditions, including congenital lung malformations: congenital central hypoventilation syndrome (CCHS)

NODAL (Nodal Disinhibitor): This gene encodes a protein called Nodal, a signalling molecule crucial for embryonic development, particularly body axis formation (left-right asymmetry) and organ development. Nodal plays a vital role in the "Nodal signalling pathway," which guides cell fate determination and patterning during early embryogenesis. Mutations in NODAL can disrupt this pathway and cause various birth defects

NOTCH1 (Notch Signalling Pathway Receptor 1): This gene encodes a protein called Notch1, a cell-surface receptor involved in the Notch signalling pathway. This pathway is critical for various developmental processes, including cell fate determination, differentiation, proliferation, and survival. Notch1 receives signals from neighbouring cells and triggers a cascade of events within the cell, influencing its behaviour. Mutations in NOTCH1 can disrupt this pathway and contribute to various developmental disorders such as, Alagille syndrome and Adams-Oliver syndrome.

NPPA (Natriuretic Peptide A): This gene encodes a protein called atrial natriuretic peptide (ANP), also known as natriuretic peptide A (NPPA). ANP is a hormone produced by the heart in response to high blood pressure or blood volume. ANP acts on the kidneys to increase sodium and water excretion, ultimately helping to lower blood pressure. Mutations in NPPA can disrupt ANP production and contribute to heart failure or hypertension.

NRAS (NRAS Proto-Oncogene, GTPase): We previously discussed HRAS and KRAS. Here's a recap for NRAS: This gene encodes a protein called NRAS, another member of the RAS protein family involved in various cellular processes, including cell growth, proliferation, and differentiation. Mutations in NRAS are less common than HRAS or KRAS mutations but can also contribute to various cancers

PCSK9 (Proprotein Convertase Subtilisin/Kexin Type 9): This gene encodes a protein called PCSK9, which plays a role in regulating cholesterol levels. PCSK9 targets LDL receptors for degradation, leading to a decrease in LDL receptor levels on liver cells. Consequently, less LDL cholesterol is removed from the bloodstream. Mutations in PCSK9 can affect its function in various ways. Some mutations can lead to increased PCSK9 activity, further lowering LDL receptor levels and causing familial hypercholesterolemia (high LDL cholesterol). Conversely, other mutations can inactivate PCSK9, leading to higher LDL receptor levels and lower LDL cholesterol levels.

PDLIM3 (PDZ Lim Domain 3): This gene encodes a protein called PDLIM3, which interacts with other proteins involved in various cellular processes, including cell adhesion, migration, and signalling. Mutations in PDLIM3 are rare, and their impact on health is not fully understood. More research is needed to determine if they contribute to any specific diseases.

PKP2 (Plakophilin 2): This gene encodes a protein called plakophilin 2, which is found in desmosomes, structures that mediate cell-cell adhesion in epithelial tissues. Plakophilin 2 interacts with other desmosomal proteins and helps maintain the integrity of these adhesion points. Mutations in PKP2 can disrupt desmosomal function and contribute to a skin blistering disorder called epidermolysis bullosa simplex (EBS).

PLN (Phospholamban): This gene encodes a protein called phospholamban (PLN), which is located on the sarcoplasmic reticulum (SR) in cardiac muscle cells. The SR stores calcium ions (Ca2+) and releases them upon stimulation, triggering muscle contraction. PLN acts as a regulator of the SR Ca2+-ATPase pump, which pumps Ca2+ back into the SR after a contraction.

RDM16 (PR Domain Containing 16): This gene encodes a protein with a PR domain, which is a protein interaction motif. PRDM16 is thought to be involved in gene regulation, but its specific function is not fully understood. Mutations in PRDM16 have been associated with cardiomyopathy.

PRKAG2 (Protein Kinase AMP-Activated Catalytic Subunit Alpha 2): This gene encodes a subunit of an enzyme called AMP-activated protein kinase (AMPK). AMPK is a critical cellular energy sensor that regulates various metabolic processes in response to changes in cellular energy levels. PRKAG2 specifically encodes the catalytic alpha-2 subunit of AMPK.

PRKAR1A (Protein Kinase A Regulatory Subunit 1A): This gene encodes a regulatory subunit of protein kinase A (PKA), a signalling enzyme involved in various cellular processes, including metabolism, cell growth, and survival. PRKAR1A specifically encodes the regulatory subunit type 1A of PKA. Mutations in PRKAR1A can disrupt PKA function and contribute to carney syndrome.

PTPN11 (Protein Tyrosine Phosphatase, Non-Receptor Type 11): This gene encodes a protein called SHP-2, a type of protein tyrosine phosphatase. These enzymes remove phosphate groups from tyrosine residues on other proteins, which can act as a regulatory switch for various cellular processes. SHP-2 plays a role in cell signalling, particularly in the immune system.

RAF1 (RAF Proto-Oncogene Serine/Threonine Kinase 1): This gene encodes a protein called RAF1, which is a kinase involved in the RAS-MAP kinase signalling pathway. This pathway plays a crucial role in cell growth, proliferation, and differentiation. Mutations in RAF1 can activate this pathway inappropriately, potentially leading to uncontrolled cell growth and contributing to various cancers.

RANGRF (RANBP1 family, member G F): This gene encodes a protein that interacts with another protein called RanBP1. RanBP1 is involved in various cellular processes, including nuclear import and export of proteins. Mutations in RANGRF are rare, and their impact on health is not fully understood. More research is needed to determine if they contribute to any specific diseases.

RBM20 (RNA Binding Motif Protein 20): This gene encodes a protein that binds to RNA (ribonucleic acid). RBM20 may play a role in various aspects of RNA processing, but its specific function is not fully understood.

RYR1 (Ryanodine Receptor 1): This gene encodes a protein called ryanodine receptor 1 (RyR1), a calcium (Ca2+) channel located on the sarcoplasmic reticulum (SR) in skeletal muscle cells. The SR stores Ca2+ and releases it upon stimulation, triggering muscle contraction. RyR1 plays a critical role in this process by allowing Ca2+ release from the SR in response to electrical signals.

RYR2 (Ryanodine Receptor 2): This gene encodes a protein called ryanodine receptor 2 (RyR2), which is similar to RyR1 but is located on the SR in cardiac muscle cells. RyR2 plays a crucial role in regulating Ca2+ release for heart muscle contraction. Mutations in RYR2 can disrupt heart function and contribute to various cardiomyopathies.

SALL4 (Sal-Like 4 (Drosophila)): This gene encodes a protein called SALL4, which is a transcription factor involved in embryonic development, particularly limb and kidney development. SALL4 regulates the expression of other genes essential for these processes.

SCN1B to SCN5A (Sodium Voltage-Gated Channel Beta Subunits 1-5): These genes (SCN1B, SCN2B, SCN3B, SCN4B, SCN5A) encode proteins called sodium voltage-gated channel beta subunits 1 to 5, respectively. These are accessory subunits that regulate the function of voltage-gated sodium channels. Sodium channels are essential for nerve impulse transmission. The beta subunits modulate the properties of these channels, such as voltage sensitivity and activation/inactivation kinetics. Mutations in these genes can disrupt sodium channel function and contribute to various neurological disorders.

SCN2B, SCN3B, SCN4B: As described previously, these genes (SCN1B was discussed earlier) encode proteins called sodium voltage-gated channel beta subunits 2, 3, and 4, respectively. These are accessory subunits that regulate the function of voltage-gated sodium channels in nerves. Mutations in these genes can disrupt nerve impulse transmission and contribute to various neurological disorders like episodic ataxia, generalized epilepsy with febrile seizures plus (GEFS+), and paroxysmal kinesigenic dyskinesia (PKD).

SCO2 (Succinate-CoA Ligase, Subunit Beta, Mitochondrial): This gene encodes a protein involved in the mitochondrial electron transport chain, a series of protein complexes responsible for cellular energy production (ATP). While SCO2 dysfunction can disrupt energy production, its role as a definitive biomarker in specific diseases is not yet fully established. More research is needed to determine its utility in clinical settings.

SDHA (Succinate Dehydrogenase Complex, Subunit A, Flavoprotein): Similar to SCO2, SDHA encodes a protein involved in the mitochondrial electron transport chain. Mutations in SDHA can cause Leigh syndrome, a severe mitochondrial disease affecting the nervous system and other organs. However, SDHA itself may not be a widely used standalone biomarker, but rather its activity or protein levels might be measured in the context of diagnosing mitochondrial diseases.

SEPN1 (Selenoprotein N1, Selenoprotein Disulfide Isomerase): This gene encodes a protein with enzymatic activity that plays a role in protein folding and reducing disulfide bonds. SEPN1 mutations are associated with a rare autosomal recessive disorder called metaphyseal chondrodysplasia type Jansen (MCJ), characterized by skeletal abnormalities. The role of SEPN1 as a biomarker for MCJ or other conditions is still under investigation.

SGCB, SGCD, SGCG (Secreted Granule Chromogranin B, C, and D): These genes encode proteins called chromogranin’s, which are found in neuroendocrine secretory granules. While chromogranin’s may be used as tumour markers in some neuroendocrine cancers, specifically elevated levels of chromogranin A (encoded by a different gene, CHGA) are more commonly used. The specific roles of SGCB, SGCD, and SGCG as established biomarkers require further investigation.

SHOC2 (SHOC2 Scaffold Protein): This gene encodes a protein involved in actin cytoskeleton organization and cell signalling. Mutations in SHOC2 have been linked to susceptibility to infections and inflammatory bowel disease (IBD). However, SHOC2 itself may not be a direct biomarker for these conditions, but rather its role in cellular processes might be relevant for understanding disease mechanisms.

SLC25A4 (Solute Carrier Family 25 Member 4): This gene encodes a protein involved in transporting mitochondrial substrates across the mitochondrial membrane. Mutations in SLC2A4 can disrupt mitochondrial function and contribute to Leigh syndrome, a severe mitochondrial disease affecting the nervous system and other organs. In this context, mitochondrial function tests (measuring cellular respiration or specific metabolite levels) might be used as biomarkers to assess SLC2A4 dysfunction.

SLC2A10 (Solute Carrier Family 2 Member 10): This gene encodes a protein that transports glucose across cell membranes. Mutations in SLC2A10 can disrupt glucose uptake and contribute to rare forms of diabetes. While SLC2A10 itself might not be a direct biomarker, blood glucose levels, and glucose tolerance tests remain the primary methods for diagnosing diabetes.

SMAD3 & SMAD4 (Mothers Against Decapentaplegic Homolog 3 & 4): These genes encode proteins involved in the transforming growth factor-β (TGF-β) signalling pathway, which plays a role in various cellular processes, including cell growth, differentiation, and development. While not directly biomarkers themselves, abnormal activation or disruption of the TGF-β pathway can be implicated in various cancers. Researchers are investigating the potential of measuring SMAD3/4 phosphorylation or expression levels as biomarkers for the diagnosis or prognosis of certain cancers.

SNTA1 (Syntaphilin 1):

This gene encodes a protein involved in the regulation of neurotransmitter release at synapses in the nervous system. Abnormal SNTA1 function has been linked to neurodegenerative diseases like Alzheimer's disease and Parkinson's disease. Research is ongoing to explore the potential of measuring SNTA1 protein levels in cerebrospinal fluid (CSF) or brain imaging techniques as biomarkers for these diseases.

SOS1 (Son of Sevenless Homolog 1): This gene encodes a protein involved in the RAS-MAP kinase signalling pathway, which plays a crucial role in cell growth, proliferation, and differentiation. Mutations in SOS1 are rare, but they have been linked to some cancers. Similar to SMAD3/4, researchers are investigating the potential of measuring SOS1 activity or expression levels as biomarkers for specific cancers.

SREBF2 (Sterol Regulatory Element Binding Protein 2): This gene encodes a transcription factor involved in regulating cholesterol and fatty acid metabolism. SREBF2 activity plays a role in maintaining cholesterol homeostasis. While SREBF2 itself might not be a direct biomarker, blood cholesterol levels and the ratio of different cholesterol types (LDL, HDL) are established biomarkers for assessing cardiovascular disease risk.

TAZ (Transcriptional Coactivator with PDZ-Binding Motif): TAZ is a protein involved in cell proliferation, differentiation, and migration. While not a direct biomarker, TAZ activity and interaction with other proteins in specific signalling pathways might be relevant for understanding cancer development and progression. Researchers are exploring the potential role of TAZ in the context of cancer diagnosis or prognosis.

TBX20, TBX3 & TBX5 (T-Box Transcription Factors 20, 3 & 5): These genes encode transcription factors involved in the development of various tissues, particularly skeletal structures and the heart. Mutations in these genes can disrupt development and contribute to specific malformation syndromes. In some cases, imaging techniques like X-rays or echocardiograms can be used to identify characteristic skeletal or cardiac abnormalities associated with TBX mutations. Additionally, genetic testing for mutations in these genes can be used for diagnosis.

TCAP (Telethonin Cap-Binding Protein): This gene encodes a protein called telethonin cap-binding protein (TCAP). TCAP plays a role in regulating the translation of mRNA (messenger RNA) into proteins. Mutations in TCAP can disrupt protein synthesis and contribute to a rare genetic disorder called limb-girdle muscular dystrophy type 1A (LGMD1A),

TGFB2 & TGFB3 (Transforming Growth Factor Beta 2 & 3): These genes encode proteins called transforming growth factor beta 2 (TGF-β2) and transforming growth factor beta 3 (TGF-β3), respectively. TGF-β proteins are signalling molecules involved in various cellular processes, including cell growth, differentiation, development, and wound healing. They exert their effects by binding to specific receptors and activating downstream signalling pathways. While not directly considered biomarkers themselves, abnormal TGF-β signalling can be implicated in various conditions, including fibrosis (excessive scar tissue formation) and certain cancers. Researchers are investigating the role of TGF-β signalling in different diseases.

TGFBR1 & TGFBR2 (Transforming Growth Factor Beta Receptor 1 & 2): These genes encode proteins called transforming growth factor beta receptor 1 (TGFBR1) and transforming growth factor beta receptor 2 (TGFBR2), respectively. These receptors bind to TGF-β proteins (like TGF-β2 and TGF-β3 mentioned above) and initiate downstream signalling pathways. Mutations in TGFBR1 or TGFBR2 can disrupt TGF-β signalling and contribute to various conditions, including Marfan syndrome and Loeys-Dietz syndrome.

TMEM43 (Transmembrane Protein 43): This gene encodes a protein with unknown function located in the endoplasmic reticulum (ER) membrane. The ER is a cellular compartment involved in protein folding and quality control. Mutations in TMEM43 are rare, and their impact on health is not fully understood. More research is needed to determine if they contribute to any specific diseases.

TMPO (Thymopoietin): This gene encodes a protein called thymopoietin, which is involved in the development and function of T-lymphocytes (T cells), a critical component of the immune system. Thymopoietin may play a role in T cell maturation and proliferation. Mutations in TMPO are rare, and their impact on health is not fully understood. More research is needed to determine if they contribute to any specific immune deficiencies.

TNNC1 (Troponin C, Slow Skeletal Muscle): This gene encodes a protein called troponin C, specifically the slow skeletal muscle isoform (TNNC1). Troponin C is a key component of the troponin complex in muscle sarcomeres (contractile units). It plays a crucial role in regulating muscle contraction by interacting with other troponin subunits and calcium ions. Mutations in TNNC1 can disrupt muscle function and contribute to various skeletal muscle disorders.

TNNT2 (Troponin T, Fast Skeletal Muscle): This gene encodes a protein called troponin T, specifically the fast skeletal muscle isoform (TNNT2). Troponin T is another component of the troponin complex and interacts with troponin C and troponin I to regulate muscle contraction in fast-twitch skeletal muscle fibres. Mutations in TNNT2 can disrupt muscle function and contribute to various skeletal muscle disorders

2. TPM1 (Tropomyosin 1, Alpha): this gene encodes a protein called tropomyosin 1, an alpha isoform found in striated muscles (skeletal and cardiac muscles). Tropomyosin is another component of the thin filament within muscle sarcomeres. It interacts with troponin and actin filaments to regulate muscle contraction. Mutations in TPM1 can disrupt muscle function and contribute to various skeletal muscle disorders.

TRDN (Triadin): This gene encodes a protein called triadin, which is located in the sarcoplasmic reticulum (SR) membrane in skeletal muscle cells. The SR stores calcium ions (Ca2+) and releases them upon stimulation, triggering muscle contraction. Triadin interacts with other proteins to regulate Ca2+ release from the SR. Mutations in TRDN are rare, and their impact on health is not fully understood. More research is needed to determine if they contribute to any specific diseases.

TRIM63 (Tripartite Motif Containing 63): This gene encodes a protein with an E3 ubiquitin ligase domain. E3 ubiquitin ligases are enzymes that target other proteins for degradation by attaching a small protein called ubiquitin. TRIM63 is involved in various cellular processes, including protein turnover and immune response. Mutations in TRIM63 are rare, and their impact on health is not fully understood. More research is needed to determine if they contribute to any specific diseases.

TRPM4 (Transient Receptor Potential Melastatin 4): This gene encodes a protein called TRPM4, a member of the transient receptor potential (TRP) channel family. TRP channels are ion channels located in the cell membrane that allow the passage of specific ions. TRPM4 is involved in various processes, including calcium signaling and sensory perception, particularly taste perception. Mutations in TRPM4 can disrupt these processes and contribute to various health conditions.

TTN (Titin): This gene encodes the largest protein found in humans, called titin. Titin is a giant sarcomeric protein that spans the entire length of a sarcomere in striated muscles. It plays a crucial role in maintaining muscle structure and elasticity and also contributes to force generation during muscle contraction. Mutations in TTN are very common, but most are not associated with any health problems. However, some specific mutations in TTN can increase the risk of developing Dilated cardiomyopathy (DCM) and various skeletal muscle disorders.

TTR (Transthyretin): This gene encodes a protein called transthyretin (TTR), which is a transport protein produced by the liver. TTR transports thyroxine (T4) and retinol-binding protein (RBP) in the bloodstream. Mutations in TTR can cause the protein to misfold and accumulate in various tissues, leading to Hereditary transthyretin amyloidosis (hATTR).

TXNRD2 (Thioredoxin Reductase 2, Mitochondrial):

This gene encodes an enzyme called thioredoxin reductase 2, which is located in the mitochondria. Mitochondria are the cell's powerhouses, and this enzyme plays a role in protecting cells from oxidative stress. Mutations in TXNRD2 can disrupt mitochondrial function and contribute to various conditions, including Mitochondrial diseases.

VCL (Vinculin): This gene encodes a protein called vinculin, which is a key component of cell adhesion complexes. These complexes connect the intracellular actin cytoskeleton to the extracellular matrix (ECM), providing structural support and allowing cells to interact with their environment.

ZBTB17 (Zinc Finger and BTB Domain Containing 17): This gene encodes a protein with a zinc finger domain and a BTB domain. Zinc finger proteins bind to specific DNA sequences, while BTB domains are involved in protein-protein interactions. The specific function of ZBTB17 is not fully understood, but it is thought to be involved in gene regulatio

ZHX3 (Zinc Finger and Homeobox Domain 3): This gene encodes a protein with a zinc finger domain and a homeobox domain. Like ZBTB17, zinc finger domains bind to DNA, and homeobox domains are involved in regulating gene expression during development. ZHX3 is thought to be a transcription factor that controls the expression of other genes involved in embryonic development and organ formation. Mutations in ZHX3 are rare, and their impact on health is not fully understood.

ZIC3 (Zinc Finger Protein of the Subfamily 1, Krüppel-Like Factor 3): This gene encodes a protein called ZIC3, a member of the Krüppel-like factor (KLF) family. KLFs are transcription factors that regulate the expression of other genes involved in various cellular processes, including development, differentiation, and cell proliferation. ZIC3 is specifically expressed in the developing nervous system and is thought to play a role in neuronal development and differentiation.