DNA

AK9 (Adenylate Kinase 9): Adenylate kinase 9 is a gene that encodes an enzyme from the adenylate kinase family, which catalyses the reversible transfer of phosphate groups between adenine nucleotides, primarily ATP and AMP. AK9 is localised to the mitochondria, where it supports energy metabolism and nucleotide balance. By facilitating ATP-AMP interconversion, it helps regulate cellular energy levels and contributes to processes such as mitochondrial function, apoptosis, and stress responses. Dysregulation of AK9 may affect metabolic and cellular homeostasis.

ARRDC3 (Arrestin Domain Containing 3): ARRDC3 is a gene involved in regulating cell signalling pathways and has been studied for its potential role in tumour suppression. It participates in receptor internalisation and may influence cellular responses to external signals, including those involved in metabolic regulation.

BNIP5 (BCL2/Adenovirus E1B 19 kDa Interacting Protein 5): BNIP5 is a protein that regulates apoptosis and cell survival. It interacts with members of the Bcl-2 family — key proteins that control cell death and survival — and plays an important role in research on cancer development and cellular stress responses.

BORCS7 (BLOC-1 Related Complex Subunit 7): BORCS7 is a part of the BLOC-1 (Biogenesis of Lysosome-related Organelles Complex-1). It plays a crucial role in the formation of lysosome-related organelles, such as melanosomes in melanocytes. Dysfunction in BORCS7 can impact pigmentation and neurological functions.

BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase): BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase) is a vital protein involved in the MAPK/ERK signalling pathway, which regulates cell growth, division, and differentiation. Mutations in BRAF are associated with several cancers, including melanoma, thyroid, and colorectal cancer, as well as some non-cancerous conditions such as cardiofaciocutaneous syndrome, affecting the heart, facial features, and skin.

C1ORF87 (Chromosome 1 Open Reading Frame 87): C1ORF87 is a gene that remains less characterised, with its function in human biology not yet fully understood. Genes labelled as "open reading frames" (ORFs) are often under active research to uncover their roles in cellular processes and their possible impacts on health and disease.

CA8, also known as Carbonic Anhydrase VIII, is an enzyme from the carbonic anhydrase family that catalyses the reversible hydration of carbon dioxide into bicarbonate ions and protons. Found mainly in the cytoplasm and mitochondria of cells, CA8 plays an important role in maintaining pH balance and regulating ion transport. This enzyme is expressed in multiple tissues, including the brain, kidneys, and reproductive organs, indicating its diverse physiological functions beyond typical carbonic anhydrase activity. In the central nervous system, CA8 is especially abundant in Purkinje cells of the cerebellum.

CD96 (CD96 Molecule): CD96 is a member of the immunoglobulin superfamily involved in immune responses. It plays a role in T-cell adhesion and activation and is considered a potential target in cancer immunotherapy due to its function in tumor immunity.

CDKN2B (Cyclin-Dependent Kinase Inhibitor 2B): CDKN2B is a gene that plays a crucial role in regulating the cell cycle by inhibiting cyclin-dependent kinases. It is vital for controlling the G1 phase of the cell cycle and preventing uncontrolled cell proliferation. Loss of CDKN2B function is commonly seen in various cancers, underscoring its role as a tumour suppressor and its potential as a target for cancer therapies.

CELF2 (CUGBP Elav-Like Family Member 2): CELF2 is a member of the CUG-BP, Elav-like family of RNA-binding proteins, which play essential roles in regulating RNA processing, including alternative splicing, stability, and translation. CELF2 is involved in immune system development and function and has been linked to neurological disorders. Its role in post-transcriptional gene regulation makes it an important factor in cell differentiation and disease development, presenting potential targets for therapeutic intervention.

COG1 (Component Of Oligomeric Golgi Complex 1): COG1 is a part of the COG complex, a vital component for normal Golgi function and protein trafficking within the cell. Proper functioning of COG1 is crucial for glycoprotein processing, and mutations in COG1 can impair Golgi activity, resulting in congenital disorders of glycosylation—a group of metabolic disorders that lead to various developmental issues.

CRHR1 (Corticotropin-Releasing Hormone Receptor 1): CRHR1 is a receptor for corticotropin-releasing hormone, a key regulator of the body’s stress response. It plays a central role in the hypothalamic-pituitary-adrenal (HPA) axis, influencing stress regulation, mood, and behaviour. Dysregulation of CRHR1 has been linked to psychiatric conditions such as depression and anxiety.

C-reactive protein (CRP) testing measures the level of CRP in the blood, a marker that reflects inflammation in the body. Elevated CRP levels can indicate acute inflammation, infections, or chronic conditions such as rheumatoid arthritis and heart disease. This test is commonly used to diagnose and monitor inflammatory conditions, detect flare-ups, and assess cardiovascular risk. Regular CRP testing helps guide treatment decisions and evaluate how well therapies are reducing inflammation.

ESR1, also known as Estrogen Receptor Alpha, is a protein that belongs 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, across different tissues in the body. ESR1 is vital for regulating gene expression in response to estrogen binding. In the absence of estrogen, ESR1 stays in the cytoplasm in an inactive state, attached to heat shock proteins. When estrogen binds, ESR1 undergoes a conformational change, detaches from the heat shock proteins, and moves to the nucleus to regulate gene transcription.

EXOC5 (Exocyst Complex Component 5): EXOC5 is a gene that encodes a protein component of the exocyst, a complex involved in vesicle trafficking. It plays a key role in directing vesicles to specific sites on the plasma membrane, supporting processes such as cellular communication, secretion, and membrane growth.

FANCC (Fanconi Anemia Complementation Group C): FANCC is a gene that encodes a protein involved in the Fanconi anemia (FA) pathway, which is vital for DNA repair and maintaining genomic stability. Mutations in FANCC can cause Fanconi anemia, a rare genetic disorder characterized by bone marrow failure, congenital abnormalities, and a heightened risk of cancer.

FARSA (Phenylalanyl-tRNA Synthetase Subunit Alpha): FARSA is a protein involved in the translation process of protein synthesis, specifically responsible for attaching phenylalanine to its corresponding tRNA. This function is essential for the accurate translation of mRNA into proteins. Mutations or dysregulation of FARSA can lead to errors in protein synthesis, potentially causing various cellular dysfunctions and contributing to disease development.

FGFR2 (Fibroblast Growth Factor Receptor 2): FGFR2 is a receptor that binds fibroblast growth factors and plays a crucial role in cell growth, differentiation, and tissue repair. It is vital for normal development, and mutations in FGFR2 are associated with several developmental disorders such as craniosynostosis and skeletal dysplasia, as well as being involved in certain cancers.

FOXO3 (Forkhead Box O3): FOXO3 is a transcription factor that plays a crucial role in regulating genes involved in cell cycle arrest, DNA repair, and apoptosis. It is a significant factor in the study of longevity and age-related diseases, influencing pathways that impact the ageing process. In ageing research, FOXO3 stands out as a key element, with scientists striving to understand its role in the complex mechanisms of life and ageing.

GLO1 (Glyoxalase I): GLO1 is a gene that encodes an enzyme responsible for detoxifying methylglyoxal, a harmful byproduct of metabolism. GLO1 helps protect cells against oxidative stress and plays a role in conditions such as diabetes and other diseases where glyoxalase activity is crucial.

GLP1R (Glucagon-Like Peptide 1 Receptor): GLP1R is a receptor for the hormone GLP-1, which plays a key role in regulating insulin secretion and glucose metabolism. When activated by GLP-1 or its analogs, GLP1R enhances insulin release, reduces glucagon secretion, and promotes feelings of fullness, making it an important target in treatments for type 2 diabetes and obesity.

HFE (Homeostatic Iron Regulator): HFE is a gene that plays a crucial role in regulating iron absorption and maintaining iron balance in the body. Mutations in HFE can cause hereditary hemochromatosis, a condition characterized by excessive iron accumulation, which may lead to organ damage.

HNF4A (Hepatocyte Nuclear Factor 4 Alpha): HNF4A is a gene that plays a crucial role in liver development and function. It encodes a transcription factor responsible for regulating the expression of genes involved in liver formation, glucose metabolism, and lipid metabolism. Mutations in HNF4A can result in metabolic disorders, including maturity-onset diabetes of the young (MODY).

IL12B (Interleukin 12B): IL12B is a gene that encodes the p40 subunit of interleukin-12 (IL-12), a cytokine involved in immune responses. IL-12 plays a key role in activating the immune system by promoting the production of interferon-gamma (IFN-γ) and stimulating the activity of T cells and natural killer (NK) cells to fight infections and tumours.

IL6 (Interleukin 6): IL6 is a cytokine that indicates the activity of the immune system and inflammation. It plays a crucial role in coordinating the body’s defence mechanisms during infections and injuries. IL6 helps regulate inflammatory responses and directs immune cells to tackle threats. Researchers examine IL6 to understand its complex interactions and its influence on both normal immune function and inflammatory conditions.

IRF8 (Interferon Regulatory Factor 8) is a gene that encodes a transcription factor crucial for the development and function of immune cells, especially dendritic cells and macrophages. It regulates genes involved in immune responses and antigen presentation. Changes in IRF8 can impact immune cell differentiation and overall immune function.

KCNIP4, also known as Kv channel-interacting protein 4, is part of the Kv channel-interacting protein (KCNIP) family, also called Kv channel regulatory proteins (KCHIPs). These proteins associate with voltage-gated potassium (Kv) channels and play a key role in modulating their function. KCNIP4 primarily regulates the properties of Kv channels, which are integral membrane proteins essential for controlling cellular electrical activity by managing potassium ion flow across membranes. Through its interaction with Kv channels, KCNIP4 influences their gating kinetics, voltage sensitivity, and membrane trafficking.

LCT (Lactase): LCT is a gene that encodes the enzyme lactase, which is essential for digesting lactose found in milk. Variations in this gene can influence the body’s capacity to break down lactose, potentially causing lactose intolerance and associated gastrointestinal symptoms.

LGR4 (Leucine-Rich Repeat-Containing G Protein-Coupled Receptor 4): LGR4 is a G protein-coupled receptor that plays a crucial role in signalling pathways, including Wnt signalling. It is essential for tissue development, maintenance, and homeostasis, and has been researched for its functions in stem cell biology and organ regeneration.

LMF2 (Lipase Maturation Factor 2): LMF2 is a gene that encodes a protein essential for the maturation and proper functioning of lipases, enzymes critical for lipid metabolism. It is involved in the processing and activation of lipases within the endoplasmic reticulum. Defects in LMF2 may contribute to dyslipidemia and other metabolic disorders related to lipid metabolism.

LONP2 (Lon Peptidase 2, Mitochondrial): LONP2 is a protein that represents mitochondrial quality control within the cell. It encodes a mitochondrial protease responsible for breaking down damaged or misfolded mitochondrial proteins. Proper functioning of LONP2 is crucial for maintaining mitochondrial health, and dysfunction can contribute to mitochondrial disorders and diseases related to aging.

LSAMP (Limbic System-Associated Membrane Protein): LSAMP is a cell adhesion molecule predominantly found in the limbic system of the brain. It plays a crucial role in synaptic plasticity and is involved in neural development and function. LSAMP has been researched concerning neuropsychiatric disorders and may have relevance for conditions like schizophrenia.

LYZ (Lysozyme): Lysozyme (LYZ) is an enzyme that plays a crucial role in the innate immune system by breaking down the peptidoglycan layer of bacterial cell walls, resulting in bacterial lysis. It is found abundantly in various secretions, including saliva, tears, and milk, as well as in neutrophil granules. Apart from its antibacterial properties, LYZ also helps modulate inflammation and holds potential therapeutic uses in treating infections and inflammatory conditions.

MARCO (Macrophage Receptor With Collagenous Structure): MARCO is a receptor found on the surface of macrophages that plays a crucial role in the immune system's response to pathogens and particulate matter. It helps in recognizing and eliminating bacteria and environmental particles, thereby contributing to innate immunity and inflammation regulation.

MDGA1 (MAM Domain Containing Glycosylphosphatidylinositol Anchor 1): MDGA1 is a protein involved in neural development and cell adhesion. It plays a key role in axon guidance and contributes to neural connectivity and synaptic function.

MECOM (MDS1 and EVI1 Complex Locus): MECOM is a transcriptional regulator involved in hematopoiesis and the development of certain cancers, especially myeloid leukemia. It encodes EVI1, a protein that functions in gene regulation, cell proliferation, and cell differentiation.

MFSD10 (Major Facilitator Superfamily Domain-Containing Protein 10): MFSD10 is a gene that encodes a protein involved in transport processes across cell membranes. While its specific function is still under investigation, MFSD10 may play a role in nutrient transport and maintaining cellular homeostasis.

MOV10L1 (Moloney leukemia virus 10-like protein 1): MOV10L1 is an RNA helicase that plays a crucial role in RNA metabolism and post-transcriptional regulation. It is involved in processes such as RNA interference, RNA degradation, and mRNA translation by unwinding RNA duplexes and assisting in the removal of target RNAs. MOV10L1 helps regulate gene expression, restrict retroviruses and retrotransposons, and maintain genome stability, with its dysregulation associated with various biological functions and disease conditions.

MPO (Myeloperoxidase): MPO is an enzyme primarily found in neutrophils and plays a crucial role in the body’s defence system. It produces hypochlorous acid and other reactive molecules from hydrogen peroxide to fight bacteria and pathogens. While vital for immune defence, MPO activity can also cause tissue damage during inflammation and has been associated with diseases, including cardiovascular conditions, through its involvement in oxidative stress.

MROH2A (Maestro Heat-Like Repeat Family Member 2A): MROH2A is a protein that belongs to a family characterised by maestro heat-like repeats, believed to be involved in lipid metabolic processes. Although its exact functions are not fully understood, MROH2A may play a role in cellular lipid metabolism and could be linked to metabolic disorders. Researching its role could offer valuable insights into metabolic regulation and mechanisms of lipid-related diseases.

MSRB2 (Methionine Sulfoxide Reductase B2): MSRB2 is an enzyme that helps repair oxidised methionine residues in proteins, safeguarding cells from oxidative stress and preserving protein function. It is a key component of the body’s antioxidant defence system, supporting cellular resilience against environmental challenges. Studies on MSRB2 explore its potential links to ageing, neurodegenerative disorders, and other conditions associated with oxidative damage.

MTHFD1 (Methylenetetrahydrofolate Dehydrogenase 1): MTHFD1 is a crucial enzyme in the folate metabolism pathway, catalysing the conversion of tetrahydrofolate (THF) derivatives into forms utilised for synthesising DNA, RNA, and amino acids. It plays an essential role in one-carbon metabolism, affecting cellular methylation reactions and nucleotide production. Mutations or dysregulation of MTHFD1 can disrupt folate metabolism and are linked to a higher risk of congenital defects, cardiovascular diseases, and cancer.

MYO18A (Myosin XVIIIA): MYO18A is a protein that represents a distinctive type of myosin in the body. It plays crucial roles in cytoskeleton organization and cell migration, contributing to muscle development and function. Abnormalities in MYO18A are linked to muscle disorders and may be associated with certain types of cancer.

NAA38 (N-Alpha-Acetyltransferase 38, NatC Catalytic Subunit): NAA38 is a part of the N-terminal acetyltransferase complex that catalyzes the transfer of acetyl groups to the N-terminus of proteins. This modification affects protein stability, localization, and function. Although the exact biological roles and substrate specificity of NAA38 are not yet fully understood, N-terminal acetylation is a common and important post-translational modification. Research on NAA38 and similar enzymes helps uncover regulatory mechanisms of protein function and the effects of protein acetylation on cellular processes and diseases.

NCF4 (Neutrophil Cytosolic Factor 4): NCF4 is a part of the NADPH oxidase complex that plays a crucial role in the immune defence system. It helps regulate the formation and activation of this complex, allowing the production of reactive oxygen species (ROS) during the oxidative burst in phagocytes. This process is vital for destroying engulfed pathogens, and mutations in NCF4 can weaken immunity, leading to increased vulnerability to infections.

NCLN (Nicalin): NCLN is a protein that forms part of a complex regulating intracellular signalling pathways essential for development. It plays a critical role in modulating Notch signalling — a pathway controlling cell differentiation, proliferation, and apoptosis. Disruption of NCLN or related pathways can contribute to developmental disorders and various diseases, including cancer, highlighting its importance in cellular communication and overall developmental processes.

NFATC2 (Nuclear Factor Of Activated T-Cells 2): NFATC2 is a transcription factor that plays a key role in regulating immune responses. It is activated in T cells by signals that increase intracellular calcium, allowing it to move to the nucleus and influence genes involved in T cell activation and differentiation. NFATC2 is important for proper immune system development, and its dysregulation has been linked to autoimmune diseases and immunodeficiency.

NFIA (Nuclear Factor I A) is a transcription factor that plays crucial roles in regulating gene expression, cellular differentiation, and development. It is primarily found in the nucleus and is part of the Nuclear Factor I (NFI) family, a group of conserved DNA-binding proteins involved in controlling transcription. NFIA functions by binding to specific DNA sequences known as NFIA recognition elements in gene promoters, modulating gene activity through interactions with co-regulators and chromatin-modifying enzymes.

NKX2-1, also known as thyroid transcription factor 1 (TTF-1), is a transcription factor that regulates gene expression by binding to specific DNA sequences. A member of the NKX family of homeodomain-containing proteins, it plays a key role in the development and function of the thyroid, lung, and brain. In the thyroid, NKX2-1 is expressed during embryonic development and is essential for the formation and differentiation of thyroid follicular cells.

NOS1 (Nitric Oxide Synthase 1): NOS1 is an enzyme that produces nitric oxide (NO), a key signaling molecule in the body. It is essential for neurotransmission, regulation of vascular tone, and modulation of immune responses. In the nervous system, NOS1 supports neuronal communication and plasticity. Imbalances in NOS1 activity have been linked to neurological disorders, cardiovascular diseases, and inflammatory conditions.

NR3C2, also known as Nuclear Receptor Subfamily 3 Group C Member 2 or mineralocorticoid receptor (MR), is a nuclear receptor protein that plays a key role in regulating electrolyte balance and blood pressure. It acts as a ligand-activated transcription factor primarily found in the cytoplasm of target cells. Upon binding to mineralocorticoid hormones like aldosterone, NR3C2 undergoes a conformational change and moves into the nucleus to mediate its effects. Its main function includes regulating sodium and potassium ion transport in the kidney, colon, and salivary glands.

NSMCE1 (Nonspecific Mitochondrial Enzyme 1): NSMCE1 is a gene that encodes a protein involved in maintaining mitochondrial DNA integrity. It plays a role in the repair and replication of mitochondrial DNA, supporting proper mitochondrial function and energy production in cells.

OPCML (Opioid Binding Protein/Cell Adhesion Molecule Like): OPCML is a glycosylphosphatidylinositol-anchored protein that plays a role in cell adhesion and signaling. It has been identified as a tumour suppressor, with its expression often reduced in various cancers, indicating a protective role against tumour development and progression.

OR13F1 (Olfactory Receptor, Family 13, Subfamily F, Member 1): OR13F1 is a protein belonging to the olfactory receptor gene family — a group of G protein-coupled receptors responsible for detecting odors. These receptors are located in the olfactory epithelium, where they bind to specific odor molecules and initiate signalling pathways that lead to the perception of smell. Although the exact ligands and functions of OR13F1 are not fully defined yet, it contributes to our sense of smell and may also be involved in detecting pheromones.

OR5H14 (Olfactory Receptor Family 5 Subfamily H Member 14): OR5H14 is part of the olfactory receptor (OR) gene family, which is responsible for detecting and binding odor molecules. These receptors play a key role in the sense of smell. The specific ligands and precise function of OR5H14 in olfaction are not yet fully understood, but it contributes to the complexity and diversity of smell perception.

PAPSS2 (3'-Phosphoadenosine 5'-Phosphosulfate Synthase 2): PAPSS2 is a gene that encodes an enzyme essential for the production of PAPS (3'-phosphoadenosine 5'-phosphosulfate), a key sulphate donor in various sulphation reactions. It plays an important role in the metabolism of hormones, drugs, and other molecules. Mutations in PAPSS2 can affect skeletal development and lead to disorders such as spondyloepimetaphyseal dysplasia.

PAX5, also known as Paired Box 5, is a transcription factor that plays a crucial role in B-cell development and differentiation. It is part of the PAX family of transcription factors, characterized by a conserved paired box domain involved in DNA binding and protein interactions. PAX5 is vital for determining B-cell lineage commitment during hematopoiesis and is expressed in progenitor cells destined to become B cells, supporting their progression from hematopoietic stem cells.

PDGFB (Platelet-Derived Growth Factor Subunit B): PDGFB is a gene that encodes a key growth factor involved in cell signalling and tissue repair. As part of the platelet-derived growth factor (PDGF) family, it plays an essential role in promoting cell proliferation, migration, wound healing, tissue remodelling, and the formation of new blood vessels (angiogenesis).

PITX2 (Paired Like Homeodomain 2): PITX2 is a transcription factor that plays a vital role in the development of multiple organ systems, including the eyes, heart, and abdominal organs. It is involved in establishing the body’s left-right asymmetry. Mutations in PITX2 are associated with Axenfeld-Rieger syndrome, a condition affecting the eyes and other organs. Understanding PITX2 is essential for developmental biology and for exploring treatments for related congenital disorders.

PLEKHG1 (Pleckstrin Homology and RhoGEF Domain Containing G1): PLEKHG1 is a gene that encodes a protein containing pleckstrin homology and RhoGEF domains. These domains indicate that the protein plays a role in signalling pathways involved in cell morphology, cytoskeletal organisation, and cellular migration. Although its exact functions are still under investigation, PLEKHG1 is thought to contribute to the regulation of cytoskeletal dynamics and cell motility.

PPP1CB (Protein Phosphatase 1 Catalytic Subunit Beta): PPP1CB is a gene that encodes a catalytic subunit of protein phosphatase 1 — an enzyme essential for regulating cellular processes through dephosphorylation. It plays crucial roles in muscle contraction, glycogen metabolism, and cell division. Dysregulation of PPP1CB activity has been associated with various diseases, including heart disorders and certain types of cancer.

PPP1R17 (Protein Phosphatase 1 Regulatory Subunit 17): PPP1R17 is a protein that functions as a regulatory subunit of protein phosphatase 1 (PP1). PP1 plays a key role in dephosphorylating target proteins and is essential for cell signalling, metabolism, and cell cycle regulation. PPP1R17 helps modulate the activity and specificity of PP1, influencing a range of cellular processes.

PPP2R3C (Protein Phosphatase 2 Regulatory Subunit B''Gamma): PPP2R3C is a gene that encodes a regulatory subunit of the protein phosphatase 2 (PP2A) complex. PP2A is a serine/threonine phosphatase involved in controlling cell growth and division. PPP2R3C modulates PP2A activity, affecting key signalling pathways related to cellular stress responses, DNA damage repair, and apoptosis. Its function is essential for maintaining cellular homeostasis and regulating cell cycle checkpoints.

PRB2 (Proline-Rich Protein BstNI Subfamily 2): PRB2 is a protein involved in oral and salivary biology. It plays a key role in the formation of the dental pellicle and the defence of the oral mucosa. As part of the proline-rich protein family, PRB2 is important for maintaining oral health and protecting against dental caries and other oral diseases.

PRDM16 (PR Domain Containing 16): PRDM16 is a transcription factor that plays a crucial role in regulating the differentiation of brown adipocytes and activating thermogenesis. It is essential for controlling energy expenditure and metabolic health. As a key regulator of the body's energy balance, PRDM16 holds significant potential in enhancing our understanding of metabolism and combating obesity.

PRRC2A (Proline-Rich Coiled-Coil 2A): PRRC2A is a protein-coding gene involved in crucial cellular processes such as cell division and gene regulation. It contains proline-rich domains and coiled-coil regions that are vital for protein-protein interactions. Although its exact functions are still under investigation, PRRC2A is linked to certain cancers and may affect cell growth and differentiation.

PTPN7 (Protein Tyrosine Phosphatase, Non-Receptor Type 7): PTPN7 is an enzyme involved in cell signalling, particularly within the immune system. It plays a key role in regulating T-cell activation and differentiation, thereby influencing immune responses. Dysregulation of PTPN7 can contribute to immune-related disorders and may have implications in autoimmune diseases and cancer due to its effects on cell signalling pathways.

PTPRM (Protein Tyrosine Phosphatase Receptor Type M): PTPRM is a receptor-type protein tyrosine phosphatase involved in cell signalling and regulation of tyrosine phosphorylation. It contributes to processes such as cell adhesion, migration, and neuronal development. Dysregulation of PTPRM has been linked to cancer progression and certain neuronal disorders.

RADX (RADX DNA Repair Helicase): RADX is a protein that plays a crucial role in DNA repair, especially in maintaining genomic stability during DNA replication. It is involved in the cellular response to DNA damage and helps prevent genomic instability — a key factor in cancer development. RADX is a significant focus in understanding DNA repair mechanisms and advancing cancer research.

RFC4 (Replication Factor C Subunit 4): RFC4 is a component of the replication factor C complex, essential for DNA replication and cell cycle regulation. It assists in loading DNA polymerases onto DNA during replication and repair processes. Abnormal regulation of RFC4 can cause genomic instability and is being studied in connection with cancer.

RGS17 is a gene that encodes a protein belonging to the regulator of G protein signaling (RGS) family. These proteins assist in controlling G protein-coupled receptor (GPCR) signalling by accelerating the conversion of GTP to GDP. RGS17 may affect multiple GPCR-regulated pathways, influencing various physiological processes.

RSPO3 (R-Spondin 3): RSPO3 is a member of the R-spondin family that modulates the Wnt signaling pathway, which is essential for embryonic development and cell growth. It plays key roles in processes such as vascular development and stem cell proliferation. Dysregulation of RSPO3 has been linked to conditions including cancer.

SCN9A (Sodium Voltage-Gated Channel Alpha Subunit 9): SCN9A encodes a voltage-gated sodium channel (NaV1.7) that is predominantly expressed in the peripheral nervous system, especially in pain-sensing neurons (nociceptors). Mutations in SCN9A can result in gain- or loss-of-function effects, causing conditions such as erythromelalgia or congenital insensitivity to pain. As a key regulator of pain sensation, NaV1.7 is a crucial target for developing new pain-relief medications.

SERINC2 (Serine Incorporator 2): SERINC2 is a protein belonging to the SERINC family that assists in incorporating serine into membrane lipids, supporting the biosynthesis and stability of cellular membranes. It plays crucial roles in maintaining membrane fluidity, regulating signaling pathways, and contributing to immune function. By influencing membrane composition, SERINC2 impacts cell proliferation, differentiation, and programmed cell death, making it vital for cellular health and physiological balance.

SH2B3 (SH2B Adaptor Protein 3): SH2B3 (SH2B Adaptor Protein 3) is an adaptor protein that negatively regulates cytokine signaling in hematopoietic cells. It plays a key role in maintaining hematopoietic stem cell homeostasis and controlling immune responses. Mutations in SH2B3 are linked to various hematologic disorders, including myeloproliferative neoplasms and autoimmune diseases, highlighting its importance in blood cell development and immune regulation.

SH3YL1 (SH3 And SYLF Domain Containing 1): SH3YL1 is a gene that encodes a protein containing SH3 and SYLF domains, suggesting a role in protein-protein interactions. Although its exact functions are still being researched, SH3YL1 is believed to participate in cellular signalling pathways and the regulation of membrane dynamics.

SRR (Serine Racemase): SRR is an enzyme that catalyses the production of D-serine, a co-agonist of the NMDA receptor. Both are essential for neurotransmission and synaptic plasticity in the brain. Changes in SRR activity can impact glutamatergic signalling and have been associated with neurodegenerative diseases like Alzheimer’s and psychiatric disorders such as schizophrenia, highlighting its important role in brain function and mental health.

STARD3 (StAR-Related Lipid Transfer Domain Containing 3): STARD3 is a protein that plays a crucial role in cholesterol trafficking and homeostasis within cells. It enables the transfer of cholesterol between endosomes and the plasma membrane or endoplasmic reticulum. As a member of the START domain family, STARD3 is vital for sterol and lipid transport. Alterations in its function can impact cellular cholesterol distribution, influencing membrane composition, signalling pathways, and potentially contributing to atherosclerosis.

STARD5 (StAR-Related Lipid Transfer Domain Containing 5): STARD5 is a protein that indicates the activity of the START domain family, which is involved in the transport and distribution of lipids within cells. It plays a crucial role in regulating lipid metabolism and maintaining lipid balance, especially in the liver and gastrointestinal tract. Although its specific functions are still under research, STARD5’s role in lipid transport suggests possible implications for metabolic disorders and diseases related to lipid imbalance.

SULT2A1 (Sulfotransferase Family 2A Member 1): SULT2A1 is a gene that encodes an enzyme from the sulfotransferase family. This enzyme is responsible for sulfating a variety of compounds, including hormones, drugs, and xenobiotics. The sulfation reactions catalysed by SULT2A1 are essential for metabolising and eliminating these substances, playing a key role in the body’s detoxification processes.

SVEP1 (Sushi, Von Willebrand Factor Type A, EGF And Pentraxin Domain Containing 1): SVEP1 is a cell adhesion molecule that supports the development of the cardiovascular and lymphatic systems. It plays a role in cell-cell interactions and signaling pathways essential for vascular stability and immune function. Variations in SVEP1 have been linked to cardiovascular conditions and may affect immune-related disorders.

TBX2 (T-Box Transcription Factor 2): TBX2 is a gene that produces a transcription factor from the T-box family. It is essential for embryonic development and tissue differentiation, especially in the formation of the heart and limbs.

TCERG1L (Transcription Elongation Regulator 1-Like): TCERG1L is a protein involved in regulating gene transcription, especially during the elongation phase of RNA polymerase II activity. It plays a crucial role in ensuring precise gene expression and affects the transcription of specific genes, thereby influencing cellular processes such as development and stress response. Understanding TCERG1L helps elucidate the mechanisms of gene regulation and their connection to diseases associated with transcriptional dysregulation.

TET2 (Tet Methylcytosine Dioxygenase 2): TET2 is an enzyme that catalyzes the conversion of 5-methylcytosine to 5-hydroxymethylcytosine in DNA. This activity plays a key role in active DNA demethylation, which is essential for regulating gene expression, guiding cellular differentiation, and maintaining genomic stability. Mutations in TET2 are frequently observed in hematological malignancies, including myelodysplastic syndromes and acute myeloid leukaemia, highlighting its role in epigenetic regulation and cancer development.

TFRC (Transferrin Receptor): TFRC is a measure that reflects the activity of a key protein responsible for maintaining iron balance in the body. TFRC facilitates the uptake of transferrin-bound iron into cells and is essential for the production of red blood cells. It is also widely recognised as a marker of cellular growth, with irregularities linked to conditions such as anaemia and cancer.

TGFB2 (Transforming Growth Factor Beta 2): TGFB2 is a cytokine that plays a key role in regulating cell growth, proliferation, differentiation, and apoptosis. It is essential for embryonic development and tissue repair and has been linked to various conditions, including cancer and fibrotic diseases.

TGM2 (Transglutaminase 2): TGM2 is a multifunctional enzyme that catalyzes the cross-linking of glutamine and lysine residues in proteins, a key post-translational modification. It is involved in crucial cellular processes such as apoptosis, cell differentiation, and tissue repair by stabilising and remodelling the extracellular matrix. TGM2 is linked to various disease pathways, including neurodegenerative disorders, fibrotic diseases, and certain cancers, where altered activity can drive disease progression. It also plays a role in immune responses, notably in coeliac disease.

THAP2 (THAP Domain Containing 2): THAP2 is a member of the THAP domain-containing protein family, identified by a specific DNA-binding domain. These proteins are involved in cell proliferation, apoptosis, and gene expression regulation. Although the precise functions of THAP2 are not completely defined, it may contribute to transcriptional regulation.

THEMIS2 (Thymocyte Selection Associated Family Member 2): THEMIS2 is a gene primarily expressed in immune cells and involved in regulating innate immune responses. It participates in signalling pathways that influence the activation and function of macrophages and B cells. Its role in immune regulation points to potential involvement in inflammatory diseases and makes it a possible target for modulating immune activity in autoimmunity and infection.

TMEM243 (Transmembrane Protein 243): TMEM243 is a gene that encodes a transmembrane protein whose function is not yet fully understood. Like many proteins of this kind, it may be involved in cellular signaling or transport mechanisms.

TMEM258 (Transmembrane Protein 258): TMEM258 is a part of the oligosaccharyltransferase complex, which plays a crucial role in N-linked glycosylation — essential for proper protein folding and stability. It is involved in maintaining endoplasmic reticulum function and may be associated with various physiological processes and diseases related to protein misfolding.

TMPRSS6 (Transmembrane Serine Protease 6): TMPRSS6 is a protein that plays a crucial role in regulating iron metabolism, primarily by controlling hepcidin — the hormone responsible for iron absorption. Mutations in TMPRSS6 can lead to iron-refractory iron deficiency anemia (IRIDA), a type of anemia that does not respond to oral iron supplementation.

TNF (Tumor Necrosis Factor): TNF is a cytokine that indicates the activity of the immune system in response to infection and tissue injury. It plays a vital role in regulating inflammation and immune responses, and its imbalance is linked to autoimmune disorders and chronic inflammatory diseases.

TP53 (Tumor Protein P53): TP53 is a gene that encodes the p53 protein, a crucial tumor suppressor involved in preventing the development of cancer. The p53 protein plays a central role in regulating cell cycle arrest, DNA repair, and apoptosis in response to DNA damage. Mutations in TP53 are associated with various types of cancer, underscoring its significance in cancer research and treatment.

TPH2 (Tryptophan Hydroxylase 2): TPH2 is an enzyme that is crucial for the production of serotonin, a neurotransmitter that helps regulate mood, sleep, and appetite. TPH2 is primarily found in the brain and is key to central serotonin synthesis. Variations in the TPH2 gene have been associated with psychiatric disorders such as depression and bipolar disorder.

TRDMT1 (tRNA (cytosine(38)-C(5))-methyltransferase): TRDMT1 is an enzyme that catalyses the methylation of cytosine at position 38 in tRNA molecules. This modification, known as 5-methylcytosine (m5C), is important for tRNA stability, proper folding, and accurate codon recognition during protein synthesis. TRDMT1-mediated methylation supports key cellular processes such as gene expression regulation and stress responses. Dysregulation of TRDMT1 activity has been linked to diseases including cancer and neurodegenerative disorders.

TSKU (Tafazzin Knockdown Factor Upstream): TSKU is a gene linked to tafazzin, an enzyme involved in the biosynthesis of cardiolipin, a phospholipid found in the inner mitochondrial membrane. Tafazzin plays a crucial role in mitochondrial function and energy production. The role of TSKU in regulating tafazzin highlights its significance in maintaining the integrity of the mitochondrial membrane.

TSLP (Thymic Stromal Lymphopoietin): TSLP is a cytokine that plays a crucial role in initiating allergic inflammation and regulating immune responses at the epithelial barrier. It acts on dendritic cells, promoting a Th2-skewed immune response, which is central to the development of allergic conditions such as asthma, atopic dermatitis, and eosinophilic esophagitis. Research on TSLP emphasises its potential as a therapeutic target, with insights into its mechanisms providing opportunities for innovative treatments of these diseases.

UBQLN2, also known as Ubiquilin-2, is a protein involved in the ubiquitin–proteasome system (UPS), a crucial pathway for protein degradation within cells. It contains ubiquitin-like (UBL) and ubiquitin-associated (UBA) domains that facilitate interactions with ubiquitinated proteins and proteasome components. UBQLN2 acts as a shuttle factor, transporting ubiquitinated proteins to the proteasome for degradation and aiding in protein quality control.

ULK3 (Unc-51 Like Kinase 3): ULK3 is a member of the serine/threonine kinase family, involved in regulating key cellular processes such as autophagy, which helps degrade and recycle cellular components. While its precise functions and impact on human health and disease are still under investigation, ULK3 plays an important role in maintaining cellular balance.