DNA

AAK1 (AP2-Associated Kinase 1) is a gene that encodes a protein kinase involved in clathrin-mediated endocytosis — a key process cells use to internalise molecules from their surroundings. AAK1 helps regulate the internalisation and trafficking of cell surface receptors, supporting essential cellular functions such as signalling and membrane recycling.

ABCA6 (ATP-Binding Cassette Subfamily A Member 6) is a protein that belongs to the ATP-binding cassette (ABC) transporter family. It plays a key role in transporting lipids across cellular membranes, contributing to lipid metabolism and maintaining cellular lipid balance.

ABCC5 (ATP-binding cassette subfamily C member 5) is a protein that acts as a cellular transporter, moving various molecules out of cells. It is part of the ATP-binding cassette (ABC) transporter superfamily and is involved in drug resistance, particularly in cancer. Understanding the activity of ABCC5 is crucial for enhancing the effectiveness of chemotherapy and developing targeted treatment strategies.

ABCG2 (ATP-Binding Cassette Subfamily G Member 2) is a protein that acts as a cellular transporter, moving various molecules—including drugs, toxins, and metabolites—out of cells. As a member of the ATP-binding cassette (ABC) transporter family, it plays a crucial role in protecting tissues from harmful substances and contributes to drug resistance.

ABLIM1 (Actin Binding LIM Protein 1) is a protein that helps organise the actin cytoskeleton — a structural network essential for cell movement, shape, and division. It plays key roles in muscle development and neural function, with disruptions linked to certain muscular and neurological disorders.

ACP1 (Acid Phosphatase 1, Soluble) is a gene that encodes an enzyme involved in various cellular processes, including signal transduction and energy metabolism. It exists in several isoforms with distinct roles, affecting immune function and cellular signalling. Variations in ACP1 have been linked to an increased susceptibility to certain autoimmune disorders and metabolic conditions.

ACYP2 (Acylphosphatase 2) is a gene that encodes an enzyme involved in hydrolysing acylphosphates, contributing to cellular energy metabolism. It plays a role in muscle function, potentially affecting muscle efficiency and endurance. Variations in ACYP2 have been associated with ageing and age-related conditions, highlighting its potential link to energy regulation and lifespan.

ADCY5 (Adenylate Cyclase 5) is a gene that encodes an enzyme responsible for converting ATP into cyclic AMP (cAMP), a crucial signalling molecule. This enzyme helps regulate essential cellular functions such as neurotransmission and hormone signalling, and it may influence neurological and metabolic processes.

ADCY6 (Adenylate Cyclase 6) is a gene that encodes an enzyme responsible for converting ATP into cyclic AMP (cAMP), a crucial signalling molecule in the body. cAMP plays a key role in processes such as neurotransmission, hormone signalling, and cellular communication. Through these functions, ADCY6 may influence brain activity, metabolic regulation, and neuropsychiatric health.

ADGRB1 (Adhesion G Protein-Coupled Receptor B1) is a protein that belongs to the adhesion G protein-coupled receptor family. Also known as BAI1, it plays important roles in processes such as clearing apoptotic cells (phagocytosis) and supporting synaptic development in the brain.

ADGRL3 (Adhesion G Protein-Coupled Receptor L3) is a gene that encodes a protein in the adhesion G protein-coupled receptor family, which facilitates cell-to-cell communication and supports the development and function of the nervous system. It plays a key role in brain formation, neuronal signalling, and maintaining neural connectivity. Variations in ADGRL3 have been associated with neurological conditions, including attention deficit hyperactivity disorder (ADHD).

ADH1C (Alcohol Dehydrogenase 1C) is a gene that encodes an enzyme involved in the metabolism of alcohol, specifically in converting ethanol to acetaldehyde in the liver. Variations in ADH1C can affect how individuals process alcohol and have been associated with differences in alcohol sensitivity, risk of dependence, and related health outcomes.

ADH4 (Alcohol Dehydrogenase 4) is an enzyme belonging to the alcohol dehydrogenase family. It plays a key role in the metabolism of various alcohols, including ethanol. Additionally, ADH4 is involved in converting retinol (vitamin A) into retinaldehyde, a crucial step for vision and overall retinoid metabolism.

AGMO (Alkylglycerol Monooxygenase) is a gene that encodes an enzyme involved in lipid metabolism, particularly in the breakdown of ether lipids. This enzyme contributes to the regulation of bioactive lipids, which influence cell signalling and inflammatory responses. Alterations in AGMO activity may be linked to lipid-related disorders and inflammatory conditions.

The AGT gene plays a vital role in regulating blood pressure and maintaining the body's fluid balance. Variations or mutations in the AGT gene can influence the risk of developing hypertension and other cardiovascular diseases. Understanding the function of AGT is essential for managing these health conditions.

AHI1 (Abelson Helper Integration Site 1) is a gene involved in ciliogenesis and cellular signalling, essential for proper brain development and function. Mutations in AHI1 are associated with Joubert syndrome — a rare genetic disorder marked by developmental delays, cerebellar malformations, and neurological impairments.

AHSG (Alpha-2-HS-Glycoprotein), also known as fetuin-A, is a glycoprotein involved in various physiological processes, including the inhibition of mineralisation and regulation of insulin sensitivity. Elevated AHSG levels have been linked to insulin resistance and metabolic syndrome, suggesting its potential as a biomarker for these conditions.

ALG13 is a gene that encodes a key subunit of the UDP-N-acetylglucosaminyltransferase complex, which is involved in the early stages of glycosylation. Glycosylation is an essential cellular process where carbohydrates are attached to proteins or lipids, influencing their folding, stability, and function. ALG13 plays a vital role in synthesising the glycan precursor needed for proper protein glycosylation within the endoplasmic reticulum. Mutations in ALG13 are associated with congenital disorders of glycosylation, leading to various clinical issues such as developmental delays, epilepsy, and metabolic problems.

AMY1A (Amylase, Alpha 1A) is a gene that encodes alpha-amylase, an enzyme responsible for breaking down dietary starches into sugars. Variations in the AMY1A copy number are linked to differences in starch digestion and may affect metabolic health and dietary adaptation.

AP2A2 (Adaptor-Related Protein Complex 2 Alpha 2 Subunit) is a key component of the AP-2 adaptor complex, which plays an essential role in clathrin-mediated endocytosis. This process is crucial for the internalisation of receptors and proteins into cells, affecting cell signalling and nutrient absorption. Dysregulation of AP2A2 can impact neuronal development and synaptic function, with possible links to neurological disorders.

APOC1 (Apolipoprotein C-I) is a protein that belongs to the apolipoprotein family, involved in lipid metabolism and transport. It is associated with very low-density (VLDL) and high-density lipoproteins (HDL), helping to regulate the breakdown of triglyceride-rich lipoproteins. By inhibiting enzymes such as lipoprotein lipase and hepatic lipase, APOC1 influences blood lipid levels and plays a key role in cardiovascular health. Imbalances in APOC1 function can contribute to conditions such as hyperlipidaemia and atherosclerosis.

ARRB1 (Arrestin Beta 1) is a protein that plays a key role in regulating G protein-coupled receptor (GPCR) signalling. It is involved in the desensitisation and internalisation of activated GPCRs, helping to switch off downstream signals. ARRB1 is important for processes such as sensory perception, neurotransmission, and hormonal regulation.

ARSB (Arylsulfatase B) is an enzyme responsible for breaking down certain glycosaminoglycans, particularly dermatan sulphate. Proper ARSB activity helps prevent the build-up of these molecules in tissues. Deficiency or mutations in ARSB lead to Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome), a condition characterised by skeletal abnormalities, organ involvement, and other systemic effects from dermatan sulphate accumulation.

AS3MT (Arsenic (+3) Methyltransferase) is a gene that encodes an enzyme involved in the detoxification of arsenic, a toxic environmental metalloid. This enzyme facilitates the methylation of arsenic, enabling it to be more readily eliminated from the body. AS3MT plays a crucial role in arsenic metabolism and may affect an individual’s susceptibility to arsenic-related health effects.

ASPRV1 (Aspartic Peptidase, Retroviral-Like 1): ASPRV1 is a gene that encodes an aspartic peptidase enzyme. Its specific function is still under investigation, but it may be involved in proteolytic processes within cells. Ongoing research seeks to better understand its roles and potential implications.

ATP1B2 (Sodium/potassium-transporting ATPase subunit beta-2) is a protein that functions as part of the Na⁺/K⁺-ATPase pump — a vital enzyme complex responsible for maintaining the balance of sodium and potassium ions across cell membranes. This balance is essential for key physiological processes such as nerve signalling, muscle contraction, and cell volume regulation. As a beta subunit, ATP1B2 supports the assembly, stability, and membrane localisation of the pump by interacting with its catalytic alpha subunit.

B3GNTL1 (Beta-1,3-N-Acetylglucosaminyltransferase Like 1): B3GNTL1 is an enzyme involved in the biosynthesis of complex carbohydrates, specifically contributing to the formation of glycosaminoglycans, key components of the extracellular matrix. These enzymes play important roles in cell communication, signalling, and maintaining structural integrity. Although the full biological functions of B3GNTL1 are still being studied, disruptions in glycosaminoglycan synthesis can affect development and are linked to conditions such as cancer and congenital disorders.

BBX (Bobby Sox Homolog) is a transcriptional regulator that helps control cell proliferation and differentiation. It plays an important role in embryonic development and is involved in regulating circadian rhythms. Proper BBX function is essential for normal development and maintaining regular biological cycles.

BCAT1 (Branched Chain Amino Acid Transaminase 1) is an important enzyme that helps regulate the metabolism of branched-chain amino acids (BCAAs) — leucine, isoleucine, and valine. It primarily works in the cytosol of brain tissues and certain tumours, where it catalyses the reversible conversion of BCAAs into their α-keto acids, starting their breakdown process. BCAT1 plays a key role in maintaining nitrogen balance and supporting neurotransmitter production, which influences brain function and development. Additionally, BCAT1 is involved in cancer cell growth and metabolism, making it a potential biomarker for some cancers.

BTN3A2 (Butyrophilin Subfamily 3 Member A2) is a protein belonging to the butyrophilin family, which plays a crucial role in regulating immune responses. BTN3A2 is involved in the activation and differentiation of T cells, essential components of the body’s immune defence. It contributes to immune surveillance and has been associated with autoimmune diseases and cancer.

C10ORF67 (Chromosome 10 Open Reading Frame 67), also referred to as SASP, is a gene involved in regulating cell proliferation and migration. Although its precise molecular function remains unclear, it is associated with signalling pathways that affect cellular senescence and the senescence-associated secretory phenotype (SASP). This association underlines its potential significance in ageing, cancer development, and tissue regeneration.

C11ORF21 (Chromosome 11 Open Reading Frame 21) is a gene with a currently unclear or uncharacterised biological function. Although identified through genomic studies, its specific role in cellular activity and potential links to health or disease remain under investigation as part of ongoing research in human genetics.

C12ORF43 (Chromosome 12 Open Reading Frame 43) is a gene that encodes a protein with a function that remains unclear. Although research is ongoing, this protein may be involved in key cellular processes such as metabolism, signal transduction, or protein interactions. Its precise role and impact on health are not yet fully understood, but variations in its expression could potentially affect disease development.

CBS (Cystathionine beta-synthase): CBS is an enzyme essential for sulphur metabolism, playing a key role in converting homocysteine to cysteine. This process supports the production of glutathione, an important antioxidant for protecting cells against oxidative stress. CBS also participates in the transsulphuration pathway, which regulates sulphur-containing amino acids and hydrogen sulphide, a signalling molecule involved in various physiological functions. Proper CBS activity is important for maintaining cellular redox balance, vascular function, and neurotransmitter regulation. Dysregulation of CBS is linked to metabolic disorders such as homocystinuria and cardiovascular diseases.

CHD6 (Chromodomain Helicase DNA Binding Protein 6) is a gene that encodes a protein involved in chromatin remodelling, which helps regulate gene expression and maintain genomic stability. This protein plays a key role in cellular development and differentiation, and disruptions in its function have been associated with certain cancers.

COL27A1 (Collagen Type XXVII Alpha 1 Chain): COL27A1 is a gene that encodes a collagen protein essential for the structure and function of connective tissues. This type of collagen plays a vital role in cartilage formation and skeletal development. Mutations in COL27A1 have been associated with disorders affecting bone and cartilage, making it a key focus of research into musculoskeletal health and potential therapeutic targets.

CSNK1G1 (Casein Kinase 1 Gamma 1) is a gene that encodes a protein belonging to the casein kinase 1 family, involved in crucial cellular processes such as cell division, regulation of the circadian rhythm, and Wnt signalling. Through its function in Wnt signalling, CSNK1G1 may impact development and holds potential significance in cancer biology.

CSTA (Cystatin A) is a gene that encodes a cysteine protease inhibitor involved in protecting tissues such as the skin and mucous membranes from protease-related damage. It plays a crucial role in maintaining skin integrity and supporting immune defence. Mutations in CSTA have been associated with skin disorders and an increased susceptibility to infections.

CWF19L2 (Cell Cycle and WD Repeat Domain-Containing Protein 19-Like 2) is a gene that encodes a protein with WD repeat domains, which are recognised for facilitating protein-protein interactions. While its exact function is not fully understood, it is believed to play a role in cellular signalling or regulatory processes, with ongoing research aimed at clarifying its specific contributions.

CYP2C9 (Cytochrome P450 Family 2 Subfamily C Member 9) is an enzyme that plays a vital role in metabolising many drugs and natural compounds in the body. It helps the liver detoxify and eliminate these substances. Variations in the CYP2C9 gene can influence how individuals process medications, affecting drug effectiveness and side effects, which is important for personalised medicine and dosing decisions.

CYP4V2 (Cytochrome P450 Family 4 Subfamily V Member 2) is an enzyme involved in fatty acid and lipid metabolism, including the production of fatty acid epoxides that play a role in regulating blood pressure and controlling inflammation. Variants of CYP4V2 are associated with Bietti’s crystalline dystrophy, a rare retinal disorder that can lead to progressive vision loss, highlighting its significance in both lipid metabolism and eye health.

D2HGDH (D-2-Hydroxyglutarate Dehydrogenase) is a mitochondrial enzyme involved in the metabolism of D-2-hydroxyglutarate, a cellular by-product. It helps prevent the harmful accumulation of this compound. Dysfunction of D2HGDH is linked to D-2-hydroxyglutaric aciduria, a condition associated with symptoms such as developmental delays, epilepsy, and heart problems.

DAAM2 (Dishevelled Associated Activator of Morphogenesis 2) is a protein that regulates cytoskeletal organisation and cell shape. It plays an important role in processes such as cell movement, tissue development, and morphogenesis.

DBX1 (Developing Brain Homeobox 1) is a transcription factor that plays a crucial role in the development of the spinal cord and nervous system. It is essential for directing the differentiation of neural progenitor cells and ensuring the proper formation of neural structures during early development.

DCAF4 (DDB1 And CUL4 Associated Factor 4) is a key component of the CUL4-DDB1 ubiquitin ligase complex, which is responsible for tagging proteins for degradation through ubiquitination. This process is essential for regulating protein levels, maintaining cellular balance, and managing stress responses. DCAF4 helps determine which proteins are targeted, playing important roles in cell cycle control, DNA repair, and signal transduction. Disruptions in DCAF4 function can lead to cellular imbalances and have been associated with cancer and other diseases, underscoring its importance in proteostasis and cellular health.

DCSTAMP (Dendritic Cell-Specific Transmembrane Protein) is a gene that encodes a protein involved in immune function and bone health. It plays a key role in the fusion of cells to form osteoclasts and dendritic cells, which are essential for bone remodelling and immune response. Disruption of DCSTAMP can affect bone density and the regulation of the immune system.

DDI1 (DNA-Damage Inducible 1 Homolog 1) is a protein involved in crucial cellular processes such as DNA repair, cell cycle regulation, and the ubiquitin-proteasome system. It plays a vital role in responding to DNA damage by functioning as a ubiquitin-dependent protease, aiding in the degradation of specific proteins to preserve cellular health. Due to its multifunctional roles, DDI1 is essential for protecting cells from stress and may be associated with cancer and other diseases related to DNA damage and repair.

DES (Desmin) is a gene that encodes an intermediate filament protein essential for the structural stability of muscle cells. It helps maintain the integrity and function of skeletal and cardiac muscle tissue. Mutations in DES are linked to muscle disorders, including myopathies and cardiomyopathies, emphasising its key role in muscle health.

DEXI (Dexamethasone-Induced Protein) is a gene induced by glucocorticoids such as dexamethasone and is linked to immune regulation and cellular stress responses. Although its exact function remains under study, DEXI may have a role in modulating immune system activity and inflammation.

DIO1 (Type 1 Deiodinase) is an enzyme that regulates thyroid hormone activity by converting thyroxine (T4) — the inactive form — into triiodothyronine (T3), the active form. Found mainly in the liver, kidney, and thyroid gland, DIO1 plays a key role in maintaining optimal thyroid hormone levels and supporting tissue-specific metabolic responses.

DIO2 (Type 2 Deiodinase) is a gene that encodes an enzyme essential for regulating thyroid hormones. It converts the inactive thyroid hormone thyroxine (T4) into its active form, triiodothyronine (T3), by removing an iodine atom. Expressed in tissues such as the thyroid gland, brain, and brown adipose tissue, DIO2 helps mediate local, tissue-specific responses to thyroid hormones and supports metabolic and developmental processes.

DLEU7 (Deleted in Lymphocytic Leukaemia 7) is a gene identified for its potential role in cancer biology, particularly in chronic lymphocytic leukaemia (CLL). It is believed to influence key processes such as cell cycle control and programmed cell death (apoptosis). Loss or malfunction of DLEU7 may contribute to cancer development and progression, making it a focus of research for new diagnostic markers and targeted therapies.

DLG5 (Discs Large Homolog 5) is a protein that belongs to the Discs Large (DLG) family, involved in organising cellular structures and facilitating signal transmission at cell junctions. It plays an important role in maintaining the integrity of epithelial cells and may be linked to conditions such as inflammatory bowel diseases (IBD), including Crohn’s disease.

DLK1 (Delta Like Non-Canonical Notch Ligand 1) is a transmembrane protein that plays a key role in regulating important developmental processes such as adipogenesis and neurogenesis. It functions as a modulator of Notch signalling pathways and is involved in metabolic regulation as well as cancer development.

DTWD2 (DTW Domain Containing 2) is a gene believed to be involved in the process of protein ubiquitination, which is essential for protein degradation and regulation within the cell. Although less well understood, DTWD2 likely plays a role in maintaining cellular protein quality control and may influence key processes such as cell cycle regulation and the stress response.

EDAR (Ectodysplasin A Receptor) is a receptor that plays a crucial role in the development of skin appendages such as hair, teeth, and sweat glands. Proper functioning of EDAR is essential for the formation of these structures, and mutations in this gene can cause ectodermal dysplasias, a group of disorders characterised by abnormal development of these features.

EDNRA (Endothelin Receptor Type A) is a receptor that binds endothelins, peptides involved in regulating blood vessel constriction and blood pressure. It plays a vital role in cardiovascular function and may contribute to the development of cardiovascular diseases.

EGR2 (Early Growth Response 2) is a transcription factor that plays a crucial role in regulating the development of the nervous and immune systems. It is especially important for the process of myelination in the peripheral nervous system and helps regulate cell growth and differentiation. Mutations in EGR2 are associated with Charcot-Marie-Tooth disease and related neuropathies, highlighting its vital role in neural development and function.

EPHB2 (Ephrin Type-B Receptor 2): EPHB2 is a receptor tyrosine kinase that plays a key role in cell-to-cell communication and tissue organisation. By interacting with ephrin ligands, EPHB2 regulates important processes such as cell migration, adhesion, and axon guidance during development and throughout life. It is essential for maintaining the structure and function of tissues, especially in the nervous system and epithelial layers. Dysregulation of EPHB2 signalling has been linked to conditions like cancer progression, neurodevelopmental disorders, and tissue malformations.

EPS8L3 (Epidermal Growth Factor Receptor Pathway Substrate 8-Like 3) is a gene associated with the epidermal growth factor receptor (EGFR) signalling pathway, which plays a crucial role in regulating cell growth, survival, and response to external signals. Its involvement indicates potential roles in cellular communication and cancer development. Further research may elucidate its functions and significance in disease progression and therapy.

ESR1 (Estrogen Receptor Alpha) is a protein that belongs to the nuclear hormone receptor family and functions as a transcription factor. It plays a key role in mediating the effects of oestrogen, a steroid hormone, by regulating gene expression in various tissues. ESR1 is typically inactive in the cytoplasm but becomes active and moves to the cell nucleus upon binding to oestrogen, where it influences cellular processes.

EXTL2 (Exostosin-Like Glycosyltransferase 2) is a gene that encodes an enzyme involved in the production of heparan sulphate, a key component of the extracellular matrix. Heparan sulphate interacts with various growth factors and signalling molecules, playing important roles in cell proliferation, adhesion, and differentiation. EXTL2’s function in heparan sulphate synthesis underscores its importance in development and maintaining tissue health.

FAM9A (Family with Sequence Similarity 9 Member A) is a protein-coding gene belonging to a family of genes with sequence similarity. Although its specific functions are still being studied and are not yet fully understood, FAM9A is expressed in several tissues, including the brain, testis, and ovaries. This indicates it may have roles in important cellular processes within these organs. Genes in the FAM family often participate in cell signalling, transcription regulation, or protein interactions, although the precise functions of FAM9A remain under investigation.

FCER1A (High Affinity Immunoglobulin E Receptor Subunit Alpha) is a gene that encodes a protein essential for allergic reactions. It binds to immunoglobulin E (IgE) and activates mast cells and basophils, triggering the release of histamine and other inflammatory mediators. This process contributes to allergy and asthma symptoms, making FCER1A a key target for therapies aimed at reducing allergic responses.

FDX1 (Ferredoxin 1) is a mitochondrial protein involved in electron transport, playing a key role in various metabolic pathways such as steroid hormone synthesis and cellular detoxification. It also contributes to the formation of iron-sulphur clusters — essential cofactors for numerous enzymes. Disruptions in FDX1 function can affect energy production and have been linked to mitochondrial-related diseases.

FOLH1 (Folate Hydrolase 1), also known as Prostate-Specific Membrane Antigen (PSMA), is a gene involved in folate metabolism and the activation of folate for DNA synthesis and repair. It plays a key role in cell growth and division. FOLH1 is notably expressed in prostate cancer cells, making it a valuable target for cancer diagnosis and therapy.

FPR1 (Formyl Peptide Receptor 1) is a receptor that plays a crucial role in the immune system by directing neutrophils to sites of infection or inflammation. It recognises formyl peptides, which serve as signals indicating the presence of microbial invaders, aiding the body in mounting an effective immune response.

GAD2 (Glutamate Decarboxylase 2): GAD2 is essential for the synthesis of gamma-aminobutyric acid (GABA), a key neurotransmitter in the brain. It contributes to the regulation of neuronal excitability and has been linked to conditions such as epilepsy and anxiety disorders.

GADL1 (Glutamate Decarboxylase Like 1) is a protein related to glutamate decarboxylases, enzymes involved in producing the neurotransmitter GABA. While its precise function is not completely understood, GADL1 is believed to be involved in amino acid metabolism and neurotransmitter synthesis. It is researched for its potential role in neurological function and associated disorders.

GALNT13 (Polypeptide N-Acetylgalactosaminyltransferase 13) is a gene that encodes an enzyme involved in the initiation of O-linked glycosylation—a key post-translational modification process. It transfers N-acetylgalactosamine (GalNAc) to specific protein sites in the Golgi apparatus, affecting protein trafficking, secretion, and cell surface interactions. GALNT13 plays a role in cell signalling, adhesion, and immune response, with its dysregulation linked to diseases such as cancer and metabolic disorders.

GPSM1 (G Protein Signalling Modulator 1) is a gene involved in regulating G protein signalling pathways, which are essential for cellular responses to external signals. It plays a role in cell polarisation and directional movement. GPSM1 has been studied for its potential involvement in cancer, particularly in tumour cell migration and invasion.

GRIN3A (Glutamate Ionotropic Receptor NMDA Type Subunit 3A) is a gene that encodes a subunit of the NMDA receptor, which belongs to the glutamate receptor family. NMDA receptors are vital for synaptic plasticity, learning, and memory, playing a key role in neuronal communication. Variations in GRIN3A can affect brain function and are of interest in neurological research.

GSTM3 (Glutathione S-Transferase Mu 3) is a gene that encodes an enzyme from the glutathione S-transferase family, which is responsible for detoxifying harmful substances. It plays a crucial role in metabolising carcinogens, medications, and by-products of oxidative stress. Variations in GSTM3 may affect an individual’s susceptibility to cancer, neurodegenerative diseases, and other conditions linked to detoxification pathways.

GTPBP10 (GTP-binding protein 10) is a gene that encodes a protein involved in cellular regulation through interactions with guanine nucleotides. As a member of the GTP-binding protein family, GTPBP10 is associated with processes such as protein synthesis, ribosome assembly, and mitochondrial function. Although its exact roles are still being studied, it may contribute to GTPase activity and play a part in maintaining cellular and mitochondrial homeostasis.

HP1BP3 (Heterochromatin Protein 1 Binding Protein 3) is a gene that encodes a protein involved in chromatin structure and gene regulation. It interacts with components of heterochromatin, playing a role in genomic stability, DNA repair, and gene silencing. HP1BP3 may influence cellular differentiation and has potential implications in diseases such as cancer, where these processes are often disrupted.

HTR2C (5-Hydroxytryptamine Receptor 2C) is a serotonin receptor subtype involved in regulating mood, appetite, and behaviour. It plays a key role in central nervous system (CNS) functions and is a target for certain psychiatric medications. Variations or dysfunctions in HTR2C have been linked to mental health conditions such as depression, anxiety, and schizophrenia, as well as metabolic disorders.

IRX6 (Iroquois Homeobox 6) is a gene that encodes a transcription factor from the Iroquois homeobox family, known for its role in early embryonic development. It contributes to the formation and patterning of organs and tissues, particularly in the heart and craniofacial regions. Alterations in IRX6 may be linked to developmental abnormalities and are of interest in studies of congenital and craniofacial disorders.

JAML (Junctional Adhesion Molecule Like) is a cell adhesion molecule that plays a key role in regulating the movement of leukocytes across epithelial and endothelial barriers. This process is essential for the immune response, allowing immune cells to migrate from the bloodstream into tissues during injury or infection. JAML mediates cell-to-cell interactions critical for inflammation and immune surveillance, making it an important focus for understanding and treating inflammatory diseases and immune disorders.

KATNIP (Katanin Interacting Protein): KATNIP is a gene that encodes a protein involved in regulating the katanin complex, which is responsible for severing microtubules. Through this interaction, KATNIP may influence microtubule dynamics, affecting cell division, movement, and intracellular transport.

LPP (LIM Domain Containing Preferred Translocation Partner In Lipoma) is a protein involved in regulating cell adhesion, migration, and the organisation of the actin cytoskeleton. It plays a key role in forming focal adhesions and stress fibres, which connect the cytoskeleton to the extracellular matrix. LPP’s function is essential for controlling cell movement and maintaining cellular structure. Changes in LPP have been linked to the development of lipomas and other tumours, underscoring its significance in cell biology and cancer research.

PATJ (Pals1-Associated Tight Junction Protein) is a protein associated with tight junctions, which are crucial structures for maintaining the integrity of epithelial and endothelial cell layers. PATJ plays a significant role in establishing cell polarity and forming cell-cell junctions. It is essential for preserving tissue barrier function.

PIGN (Phosphatidylinositol Glycan Anchor Biosynthesis Class N) is a gene involved in the synthesis of glycosylphosphatidylinositol (GPI) anchors, which attach certain proteins to the cell membrane. These GPI-anchored proteins are vital for functions such as cell adhesion, signal transmission, and immune system activity. Mutations in PIGN can impair GPI anchor formation, resulting in conditions characterised by developmental delays, neurological issues, and congenital defects.

PRIMA1 (Proline Rich Membrane Anchor 1): PRIMA1 is a gene that encodes a protein responsible for anchoring acetylcholinesterase to neuronal membranes. This protein is crucial for the breakdown of the neurotransmitter acetylcholine and plays an important role in regulating cholinergic neurotransmission. It is also significant in research into neurodegenerative diseases such as Alzheimer’s.

RYR1 (Ryanodine Receptor 1) is a gene that encodes a calcium channel protein essential for muscle contraction. Variants in RYR1 are associated with malignant hyperthermia, a rare but serious reaction to certain anaesthetics. Identifying RYR1 mutations can help assess risk and guide safer anaesthesia choices during surgery.

SATB1 (SATB Homeobox 1) is a DNA-binding protein that plays a crucial role in organising chromatin structure and regulating gene expression, particularly in T cells. It helps shape nuclear architecture by anchoring chromatin loops and controlling genes involved in T cell development and immune function. Changes in SATB1 expression have been associated with immune regulation and various cancers.

SHISA4 (Shisa Family Member 4) is a protein involved in regulating synaptic function and neuronal excitability. It modulates the activity of key receptors in the central nervous system, including AMPA and NMDA receptors, playing a vital role in neuronal signalling and synaptic plasticity. Due to its role in synaptic modulation, SHISA4 is of interest in research into neurological disorders and synaptic dysfunction.

SLC44A1 (Solute Carrier Family 44 Member 1) is a gene that encodes a protein responsible for transporting choline, an essential nutrient involved in the production of the neurotransmitter acetylcholine and the maintenance of cell membrane structure. This transporter supports vital processes such as nerve signalling and cell health. Disruptions in choline transport may impact brain function and have been associated with neurological disorders like Alzheimer’s disease.

SLC44A5 (Solute Carrier Family 44 Member 5) is a gene that encodes a membrane transport protein belonging to the solute carrier family. Although its specific functions and substrates are not fully defined, SLC44A5 is believed to play a role in essential cellular transport processes involved in maintaining homeostasis and normal cell function.

SLC4A4 (Solute Carrier Family 4 Member 4) is a gene that encodes a sodium bicarbonate cotransporter involved in regulating the body’s acid-base balance. Predominantly expressed in the kidneys and pancreas, it plays a crucial role in bicarbonate reabsorption and pH regulation. Disruptions in SLC4A4 function can impair the body’s ability to maintain acid-base homeostasis, contributing to conditions such as renal tubular acidosis.

SMIM21 (Small Integral Membrane Protein 21) is a gene that encodes a membrane protein whose role in cellular functions remains unclear. It may participate in signalling or transport processes within the cell, but further research is required to understand its specific functions and potential impact on health and disease.

SORCS3 (Sortilin-Related VPS10 Domain Containing Receptor 3) is a protein that belongs to the VPS10 domain-containing receptor family, involved in protein trafficking and sorting within cells. It plays a key role in the nervous system by regulating the movement of proteins important for synaptic function. Changes in SORCS3 activity have been associated with neurological conditions such as Alzheimer’s disease and schizophrenia.

SOX4 (SRY-Box Transcription Factor 4) is a transcription factor involved in regulating embryonic development and determining cell fate. It plays essential roles in the development of the heart, pancreas, and lymphocytes. SOX4 also influences cancer progression by regulating cell growth, programmed cell death, and metastasis, emphasising its importance in both development and tumourigenesis.

SPINK5 (Serine Peptidase Inhibitor, Kazal Type 5) is a gene that encodes a protein responsible for regulating enzyme activity in the skin. This protein helps maintain the integrity of the skin barrier and supports immune defence. Mutations in SPINK5 are associated with Netherton syndrome, a condition characterised by skin inflammation, scaling, and an increased risk of allergies.

SPINT2 (Serine Peptidase Inhibitor, Kunitz Type 2) is a gene that encodes a serine protease inhibitor involved in regulating key cellular processes such as growth, migration, and invasion. Also known as HAI-2, SPINT2 helps control proteolytic activity—particularly by inhibiting matriptase, a protease important for epithelial integrity and signalling. Disruption of SPINT2 function has been linked to tumour development and progression, underscoring its role in maintaining tissue homeostasis and cancer suppression.

SSBP3 (Single Stranded DNA Binding Protein 3) is a protein that binds specifically to single-stranded DNA. It plays an important role in DNA repair and replication, helping to maintain genomic stability. By supporting the cell’s response to DNA damage, SSBP3 is crucial for proper cellular function and has potential implications in cancer biology.

STEAP1B (STEAP Family Member 1B) is a protein belonging to the Six Transmembrane Epithelial Antigen of the Prostate (STEAP) family. It is involved in metalloreduction, specifically the reduction of iron and copper ions. STEAP1B plays a role in regulating cellular iron homeostasis and metabolism, which are essential for numerous physiological functions. While its precise role in human health and disease is still under investigation, STEAP1B may have important implications for understanding iron-related metabolic pathways.

TAS2R5 (Taste 2 Receptor Member 5): TAS2R5 is a bitter taste receptor in humans that plays a vital role in detecting bitterness. These receptors aid in identifying potentially harmful substances in food. Variations in TAS2R5 and other taste receptors can influence dietary preferences and nutritional choices, which may impact metabolism and overall health.

TPMT (Thiopurine S-Methyltransferase): TPMT is an enzyme that metabolizes thiopurine drugs, such as azathioprine, mercaptopurine, and thioguanine, which are used in autoimmune diseases and cancer treatment. Genetic variations in TPMT affect enzyme activity, influencing drug breakdown and toxicity risk. Individuals with low TPMT activity are at higher risk of severe bone marrow suppression. Testing TPMT helps adjust thiopurine dosage to reduce adverse effects and improve treatment safety.

UBE4B (Ubiquitination Factor E4B) is a gene that encodes a protein involved in the ubiquitin–proteasome system, which helps regulate protein degradation and quality control in cells. It plays a key role in removing damaged or misfolded proteins, particularly in neurons. Disruption of UBE4B function has been linked to neurodegenerative diseases, highlighting its importance in cellular stress response and neurological health.

VMP1 (Vacuole Membrane Protein 1) is a gene involved in autophagy, a vital cellular process responsible for breaking down and recycling cellular components. It plays a key role in the formation of autophagosomes, which help maintain cellular equilibrium. Dysregulation of VMP1 can disrupt cell homeostasis and has been associated with conditions such as pancreatitis and certain types of cancer.