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 belongs to the ATP-binding cassette (ABC) transporter superfamily and plays a role in drug resistance, especially in cancer. Understanding ABCC5 activity is crucial for enhancing chemotherapy effectiveness 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 part of the ATP-binding cassette (ABC) transporter family, it plays a crucial role in shielding 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 vital 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 multiple cellular processes, including signal transduction and energy metabolism. It exists in several isoforms with distinct roles, influencing immune function and cellular signalling. Variations in ACP1 have been associated with increased susceptibility to certain autoimmune disorders and metabolic conditions.

ACYP2 (Acylphosphatase 2) is a gene that encodes an enzyme involved in breaking down acylphosphates, playing a crucial role in cellular energy metabolism. It contributes to muscle function, potentially impacting muscle efficiency and stamina. Variations in ACYP2 have been linked to aging and related conditions, underlining its possible connection to energy regulation and lifespan.

ADCY5 (Adenylate Cyclase 5) is a gene encoding an enzyme that converts ATP into cyclic AMP (cAMP), an essential signalling molecule. This enzyme plays a key role in regulating important cellular functions such as neurotransmission and hormone signalling, and it may affect neurological and metabolic processes.

ADCY6 (Adenylate Cyclase 6) is a gene that encodes an enzyme responsible for converting ATP into cyclic AMP (cAMP), a vital 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 codes for a protein in the adhesion G protein-coupled receptor family, which aids in cell-to-cell communication and supports the development and functioning of the nervous system. It plays a crucial role in brain formation, neuronal signaling, and maintaining neural connectivity. Variations in ADGRL3 have been linked to neurological conditions, including attention deficit hyperactivity disorder (ADHD).

ADH1C (Alcohol Dehydrogenase 1C) is a gene that codes for an enzyme involved in alcohol metabolism, specifically converting ethanol to acetaldehyde in the liver. Variations in ADH1C can influence how individuals metabolise alcohol and have been linked to 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 fluid balance in the body. 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 characterised 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 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 synthesizing 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 codes for alpha-amylase, an enzyme that breaks 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 crucial part of the AP-2 adaptor complex, which is vital for clathrin-mediated endocytosis. This process is essential for the uptake of receptors and proteins into cells, affecting cell signalling and nutrient absorption. Dysregulation of AP2A2 can influence neuronal development and synaptic function, potentially linking to neurological disorders.

APOC1 (Apolipoprotein C-I) is a protein belonging to the apolipoprotein family, involved in lipid metabolism and transport. It is associated with very low-density lipoproteins (VLDL) and high-density lipoproteins (HDL), helping 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 crucial role in cardiovascular health. Imbalances in APOC1 function can lead to conditions like hyperlipidemia and atherosclerosis.

ARRB1 (Arrestin Beta 1) is a protein that plays a crucial 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 sulfate. Proper ARSB activity helps prevent the buildup of these molecules in tissues. Deficiency or mutations in ARSB lead to Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome), a condition marked by skeletal abnormalities, organ involvement, and other systemic effects from dermatan sulfate 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, allowing it to be more easily eliminated from the body. AS3MT plays a key role in arsenic metabolism and may influence 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 study, but it may be involved in proteolytic processes within cells. Ongoing research is focused on better understanding 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 crucial enzyme complex responsible for maintaining the balance of sodium and potassium ions across cell membranes. This balance is vital for key physiological functions such as nerve signaling, muscle contraction, and regulation of cell volume. As a beta subunit, ATP1B2 aids in the assembly, stability, and positioning of the pump in the membrane 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 like 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 functions in the cytosol of brain tissues and certain tumors, where it catalyses the reversible conversion of BCAAs into their α-keto acids, initiating 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 that is part of the butyrophilin family, which plays a crucial role in regulating immune responses. BTN3A2 is involved in activating and differentiating T cells, the key players in the body's immune defence. It aids in immune surveillance and has been associated with autoimmune diseases and cancer.

C10ORF67 (Chromosome 10 Open Reading Frame 67), also known as SASP, is a gene involved in regulating cell proliferation and migration. While its exact molecular function remains unclear, it is linked to signalling pathways that influence cellular senescence and the senescence-associated secretory phenotype (SASP). This connection highlights its potential importance in ageing, cancer development, and tissue regeneration.

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

C12ORF43 (Chromosome 12 Open Reading Frame 43) is a gene that encodes a protein whose function remains unclear. Although research is ongoing, this protein may play a role in vital cellular processes such as metabolism, signal transduction, or protein interactions. Its exact function and impact on health have yet to be fully understood, but variations in its expression could potentially affect the development of diseases.

CBS (Cystathionine beta-synthase): CBS is an enzyme crucial for sulfur metabolism, playing a key role in converting homocysteine into cysteine. This process aids in the production of glutathione, an important antioxidant that protects cells from oxidative stress. CBS also takes part in the transsulfuration pathway, which regulates sulfur-containing amino acids and hydrogen sulfide—a signalling molecule involved in various physiological functions. Proper CBS activity is essential for maintaining cellular redox balance, vascular health, and neurotransmitter regulation. Dysregulation of CBS is associated with 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 remodeling, 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 crucial role in cartilage formation and skeletal development. Mutations in COL27A1 have been associated with disorders affecting bone and cartilage, making it a key focus in research on 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, which plays a role in essential cellular functions such as cell division, regulation of the circadian rhythm, and Wnt signaling. Through its involvement in Wnt signaling, CSNK1G1 may affect 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 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 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 known 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 assists the liver in detoxifying and clearing 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 the metabolism of fatty acids and lipids, 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 byproduct. It helps prevent the harmful buildup 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 organization 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 vital 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 crucial component of the CUL4-DDB1 ubiquitin ligase complex, which tags proteins for degradation through ubiquitination. This process is vital for regulating protein levels, maintaining cellular balance, and managing stress responses. DCAF4 helps select the proteins to be targeted, playing significant roles in cell cycle regulation, DNA repair, and signal transduction. Disruptions in DCAF4 function can cause cellular imbalances and have been linked to cancer and other diseases, highlighting 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 impact bone density and immune system regulation.

DDI1 (DNA-Damage Inducible 1 Homolog 1) is a protein involved in essential cellular processes such as DNA repair, regulation of the cell cycle, and the ubiquitin-proteasome system. It plays a crucial role in responding to DNA damage by functioning as a ubiquitin-dependent protease, aiding in the degradation of specific proteins to sustain cellular health. Due to its multifunctional roles, DDI1 is vital 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 maintaining the structural stability of muscle cells. It helps preserve the integrity and function of skeletal and cardiac muscle tissues. Mutations in DES are associated with muscle disorders, including myopathies and cardiomyopathies, underscoring its critical role in muscle health.

DEXI (Dexamethasone-Induced Protein) is a gene induced by glucocorticoids such as dexamethasone and is associated with immune regulation and cellular stress responses. While its precise function is still under investigation, DEXI may play 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 thyroid hormone regulation. It converts the inactive thyroid hormone thyroxine (T4) into its active form, triiodothyronine (T3), by removing an iodine atom. Expressed in tissues like 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 Leukemia 7) is a gene identified for its potential role in cancer biology, particularly in chronic lymphocytic leukemia (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 is part of the Discs Large (DLG) family, involved in organising cellular structures and aiding signal transmission at cell junctions. It plays a vital role in maintaining the integrity of epithelial cells and may be associated with 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 crucial role in regulating essential developmental processes such as adipogenesis and neurogenesis. It acts as a modulator of Notch signaling pathways and is involved in metabolic regulation as well as cancer progression.

DTWD2 (DTW Domain Containing 2) is a gene believed to be involved in the protein ubiquitination process, which is crucial for protein degradation and regulation inside the cell. Although it is less well-studied, DTWD2 probably plays a role in maintaining cellular protein quality control and may impact important processes such as cell cycle regulation and 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 vital for the formation of these structures, and mutations in this gene can lead to ectodermal dysplasias, a group of disorders marked 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 significant role in cardiovascular function and may contribute to the onset 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 myelination process 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 crucial role in cell-to-cell communication and tissue organisation. Through its interaction with ephrin ligands, EPHB2 regulates vital 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, particularly in the nervous system and epithelial layers. Dysregulation of EPHB2 signalling has been associated with conditions such as 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) signaling pathway, which plays a crucial role in regulating cell growth, survival, and response to external stimuli. Its involvement indicates potential roles in cellular communication and cancer development. Further studies may clarify its functions and significance in disease progression and treatment.

ESR1 (Estrogen Receptor Alpha) is a protein belonging to the nuclear hormone receptor family and acts as a transcription factor. It plays a crucial role in mediating the effects of estrogen, a steroid hormone, by regulating gene expression in various tissues. ESR1 is usually inactive in the cytoplasm but becomes active and translocates to the cell nucleus upon binding to estrogen, where it influences cellular processes.

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

FAM9A (Family with Sequence Similarity 9 Member A) is a protein-coding gene that belongs to a group of genes sharing sequence similarity. Although its specific functions are still being studied and are not completely understood, FAM9A is expressed in several tissues, including the brain, testis, and ovaries. This indicates it may have roles in vital cellular processes within these organs. Genes in the FAM family often participate in cell signaling, transcription regulation, or protein interactions, but the precise functions of FAM9A are still 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-sulfur 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 is involved in regulating neuronal excitability and has been linked to disorders such as epilepsy and anxiety disorders.

GADL1 (Glutamate Decarboxylase Like 1) is a protein related to glutamate decarboxylases, enzymes involved in the production of the neurotransmitter GABA. Although its precise function is not completely understood, GADL1 is believed to play a role in amino acid metabolism and neurotransmitter synthesis. It is being studied for its potential involvement in neurological functions and associated disorders.

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

GPSM1 (G Protein Signaling Modulator 1) is a gene that regulates G protein signaling pathways, which are vital for cellular responses to external signals. It is involved in cell polarization and directed movement. GPSM1 has been researched for its possible role in cancer, especially in tumor cell migration and invasion.

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

GSTM3 (Glutathione S-Transferase Mu 3) is a gene that encodes an enzyme from the glutathione S-transferase family, which helps detoxify harmful compounds. It plays a crucial role in metabolising carcinogens, drugs, and byproducts of oxidative stress. Variations in GSTM3 may affect individual 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 some psychiatric medications. Variations or dysfunctions in HTR2C have been associated with mental health conditions like 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 crucial role in regulating the movement of leukocytes across epithelial and endothelial barriers. This process is vital for the immune response, enabling immune cells to migrate from the bloodstream into tissues during injury or infection. JAML mediates cell-cell interactions essential for inflammation and immune surveillance, making it a key target 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, impacting 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 organization 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-to-cell junctions. It is vital 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 specific proteins to the cell membrane. These GPI-anchored proteins are crucial for functions such as cell adhesion, signal transmission, and immune system activity. Mutations in PIGN can impair GPI anchor formation, resulting in disorders characterised by developmental delays, neurological issues, and congenital abnormalities.

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

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 linked to 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 important receptors in the central nervous system, including AMPA and NMDA receptors, playing a key role in neuronal signalling and synaptic plasticity. Because of its role in synaptic modulation, SHISA4 is of interest in research on 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 producing the neurotransmitter acetylcholine and maintaining cell membrane structure. This transporter supports key processes like nerve signalling and cell health. Disruptions in choline transport may affect brain function and have been linked to neurological disorders such as 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 acid-base balance in the body. Mainly expressed in the kidneys and pancreas, it plays a key 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 might be involved in signalling or transport processes within the cell, but more research is required to understand its specific functions and potential effects on health and disease.

SORCS3 (Sortilin-Related VPS10 Domain Containing Receptor 3) is a protein belonging to the VPS10 domain-containing receptor family, involved in protein trafficking and sorting within cells. It plays a crucial role in the nervous system by regulating the movement of proteins essential for synaptic function. Alterations in SORCS3 activity have been linked to neurological disorders 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, highlighting its importance in both development and tumorigenesis.

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 skin barrier integrity and supports immune defence. Mutations in SPINK5 are linked to Netherton syndrome, a condition marked by skin inflammation, scaling, and increased allergy risk.

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 specifically binds to single-stranded DNA. It plays a vital role in DNA repair and replication, helping to maintain genomic stability. By supporting the cell’s response to DNA damage, SSBP3 is essential for proper cellular function and has significant implications in cancer biology.

STEAP1B (STEAP Family Member 1B) is a protein that belongs 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 vital for many physiological functions. Although its exact role in human health and disease is still being studied, STEAP1B may have significant implications for understanding iron-related metabolic pathways.

TAS2R5 (Taste 2 Receptor Member 5): TAS2R5 is a bitter taste receptor in humans that plays an important role in detecting bitterness. These receptors help identify 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 metabolises 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 for breaking down and recycling cellular components. It plays a key role in the formation of autophagosomes, which help maintain cellular balance. Dysregulation of VMP1 can disturb cell homeostasis and has been associated with conditions such as pancreatitis and certain cancers.