DNA

ABHD2 (Abhydrolase Domain Containing 2) is a gene that encodes an enzyme belonging to the serine hydrolase family, involved in lipid metabolism and signalling. This enzyme acts on lipid molecules and plays important roles in processes such as sperm capacitation, muscle contraction, and heat production. ABHD2’s function in lipid regulation makes it a key player in metabolism and a potential target for treating conditions related to fertility, obesity, and metabolic health.

ABT1 (Activator of Basal Transcription 1) is a protein involved in regulating gene expression by initiating transcription. It functions as part of the RNA polymerase I (Pol I) machinery, which transcribes ribosomal RNA (rRNA) genes. ABT1 acts as a transcription factor, binding to specific promoter sequences of rRNA genes and recruiting other transcription factors along with the Pol I complex to facilitate rRNA production.

ACOXL (Acyl-CoA Oxidase-Like) is a protein related to the acyl-CoA oxidase family, which plays a key role in the β-oxidation of very long-chain fatty acids within peroxisomes. Although its precise metabolic function is not yet fully understood, ACOXL is believed to contribute to lipid metabolism and the regulation of fatty acid breakdown. Research into ACOXL may offer insights into metabolic disorders and diseases associated with lipid storage and oxidation.

ACTL7B (Actin-Like 7B) is a member of the actin family, a group of proteins that form essential parts of the cell’s cytoskeleton. Actins play crucial roles in maintaining cell shape, facilitating movement, and supporting cell division. Although the precise function of ACTL7B is not yet fully understood, it is thought to contribute to cell structure and function, particularly in reproductive cells.

ADGRG6 (Adhesion G Protein-Coupled Receptor G6) is a receptor involved in cell adhesion and signal transduction. It plays a crucial role in key developmental processes, including the myelination of peripheral nerves and the development of the heart. Variations in ADGRG6 have been associated with developmental abnormalities, particularly affecting the nervous and cardiovascular systems.

ADGRL4 (Adhesion G Protein-Coupled Receptor L4), also known as ELTD1, is a protein involved in angiogenesis and vascular development. It plays a crucial role in regulating endothelial cell function and the formation of new blood vessels, affecting processes such as wound healing, cancer progression, and cardiovascular health.

AKR1E2 (Aldo-Keto Reductase Family 1 Member E2): AKR1E2 is part of the aldo-keto reductase (AKR) family, a group of enzymes involved in detoxifying aldehydes and ketones. Although the precise function of AKR1E2 is not yet fully understood, members of this family play key roles in metabolism and the cellular response to oxidative stress. Research into AKR1E2 may offer insights into metabolic disorders and how cells react to environmental stressors.

AKT3, also known as Protein Kinase B (PKB) gamma, is a serine/threonine protein kinase that plays a key role in regulating several cellular processes — including cell survival, proliferation, metabolism, and growth. As a member of the AKT kinase family (which includes AKT1 and AKT2), AKT3 is primarily involved in controlling cell survival and apoptosis. It becomes activated in response to growth factors, cytokines, and other extracellular signals that promote cell growth and survival. Once activated, AKT3 phosphorylates downstream targets like BAD and caspase-9, which are important in the regulation of apoptosis.

AMN1 (Amnion Associated Transmembrane Protein 1): AMN1 is a gene that encodes a transmembrane protein associated with the amnion—the protective membrane surrounding the developing foetus. Although its precise function is not fully understood, research suggests it may play a role in the regulation of amniotic fluid and foetal development. Its significance in prenatal physiology and potential links to congenital disorders continue to be an area of active study.

ANKH (Ankylosis Homologue): ANKH is a gene associated with familial chondrocalcinosis, a genetic disorder that causes calcium crystal deposits in the joints, leading to painful arthritis. ANKH encodes a protein that helps regulate extracellular inorganic pyrophosphate levels, which play an important role in joint health and the mineralisation of cartilage and bone tissues.

ARHGAP21 is a gene that encodes a protein responsible for regulating Rho GTPases, a group of proteins essential for controlling the actin cytoskeleton, cell shape, and movement. This protein plays important roles in cellular functions such as intracellular trafficking and cell migration, and it may be associated with neurological disorders.

ASTN2 (Astrotactin 2): ASTN2 is a gene that encodes a neural adhesion protein involved in neuronal migration during brain development. It plays a key role in the formation of neural networks and the overall structure of the brain. Genetic variations in ASTN2 have been linked to neurological disorders such as autism spectrum disorder and attention deficit hyperactivity disorder (ADHD).

ATP10B (ATPase Phospholipid Transporting 10B): ATP10B is a gene that encodes a protein belonging to the P-type ATPase family, involved in transporting lipids across cellular membranes. While its specific functions are not fully understood, ATP10B may play an important role in lipid metabolism and maintaining cellular homeostasis, with potential links to neurodegenerative diseases such as Parkinson’s.

ATP5PD (ATP Synthase Peripheral Stalk Subunit DAPIT) is a protein subunit of mitochondrial ATP synthase, an enzyme complex essential for cellular energy production. It contributes to the synthesis of ATP — the primary energy currency of cells — and supports mitochondrial integrity, playing a critical role in maintaining overall cellular metabolism.

BAIAP2L1 (Brain-specific angiogenesis inhibitor 1-associated protein 2-like 1) is a gene that encodes a protein involved in cellular structure and signalling. As a member of the I-BAR domain-containing protein family, BAIAP2L1 plays a key role in actin cytoskeleton remodelling, membrane shaping, and cell movement. Its I-BAR domain enables interaction with actin filaments and membrane phospholipids, contributing to the formation of dynamic structures like filopodia and lamellipodia.

BARHL2 (BarH-Like Homeobox 2): BARHL2 is a homeobox transcription factor that plays a key role in neural development. It is involved in the differentiation and specification of certain neuronal cell types during embryogenesis, helping to shape the formation of a functional nervous system.

BCL11B (B-Cell CLL/Lymphoma 11B) is a transcription factor that plays a crucial role in the development and differentiation of T-cells, as well as in neuronal development. Proper regulation of BCL11B is essential for immune function and brain development. Mutations or dysregulation of BCL11B have been linked to certain blood cancers, such as T-cell acute lymphoblastic leukaemia, and to neurodevelopmental disorders.

BCO1 (Beta-Carotene Oxygenase 1) is an enzyme that plays a crucial role in converting beta-carotene into retinal, the active form of vitamin A. Vitamin A is vital for vision, immune function, and cell communication. The activity of BCO1 affects how efficiently dietary beta-carotene is converted into vitamin A, influencing overall vitamin A levels and related health outcomes. Variations in the BCO1 gene can affect an individual’s ability to process beta-carotene and their risk of vitamin A deficiency.

BET1L (Bet1 Golgi Vesicular Membrane Trafficking Protein-Like): BET1L is a protein that plays a crucial role in the vesicular transport system, specifically managing the trafficking between the endoplasmic reticulum and the Golgi apparatus. This process is essential for the correct secretion and processing of proteins, supporting important cellular functions such as cell signalling, metabolism, and structural maintenance. BET1L’s function in this transport pathway is vital for normal cellular operations and maintaining cellular homeostasis.

BRSK2 (BR Serine/Threonine Kinase 2): BRSK2 is a member of the AMP-activated protein kinase family, involved in neuronal development and polarization. It plays a key role in synaptic plasticity and the maturation of neurons. Changes or mutations in BRSK2 have been linked to neurological disorders and may contribute to neurodevelopmental diseases.

C16ORF82 (Chromosome 16 Open Reading Frame 82), also known as FAM173B, is a gene that remains under study to determine its function. Early investigations suggest it may be involved in mitochondrial processes, playing a role in cellular energy metabolism. Due to this mitochondrial connection, it could be significant in conditions linked to mitochondrial dysfunction, although further research is required to establish its precise role.

C2CD4B (C2 Calcium-Dependent Domain Containing 4B): C2CD4B is a gene that encodes a protein containing C2 calcium-dependent domains. These domains are typically found in proteins involved in calcium-mediated cellular processes. Although the precise function of C2CD4B is still being studied, its structure indicates a possible role in calcium signalling pathways and membrane dynamics. Further research is required to determine its specific function in cellular activities.

CA3 (Carbonic Anhydrase III): CA3 is an enzyme that plays a vital role in regulating pH and ion exchange in the body’s tissues, particularly in muscles. It facilitates the rapid conversion of carbon dioxide to bicarbonate and protons, supporting essential physiological processes such as respiratory gas transport and maintaining acid-base balance in blood and tissues.

CADM1 (Cell Adhesion Molecule 1): CADM1 is a protein-coding gene that plays a crucial role in cell adhesion, a process essential for cellular communication and development. It is particularly important in the nervous system and immune response. Mutations in CADM1 have been associated with several cancers and neurological disorders, highlighting its significance in both normal physiology and disease.

CALM1 (Calmodulin 1): CALM1 encodes calmodulin, a calcium-binding protein that plays a central role in calcium signalling. Calmodulin interacts with various target proteins, regulating their activity based on changes in intracellular calcium levels. CALM1 is essential for many cellular processes, including muscle contraction, neurotransmitter release, and cell growth.

CCND2 (Cyclin D2): CCND2 is a member of the cyclin family and plays a key role in regulating the cell cycle. It forms complexes with cyclin-dependent kinases (CDKs) to control the transition from the G1 phase to the S phase. Dysregulation of CCND2 can lead to uncontrolled cell growth and is linked to the development of various cancers.

CD151 (Cluster of Differentiation 151): CD151 is a cell surface protein that belongs to the tetraspanin family. It plays a crucial role in cell adhesion, migration, and signal transduction by interacting with other proteins on the cell membrane. Through these interactions, CD151 helps regulate cellular communication and movement.

CDKN2A (Cyclin-Dependent Kinase Inhibitor 2A): CDKN2A is a tumour suppressor gene that produces two proteins, p16INK4A and p14ARF, which are involved in regulating the cell cycle and preventing tumour development. Mutations in CDKN2A are linked to a higher risk of several cancers, including melanoma and pancreatic cancer.

COMT (Catechol-O-Methyltransferase): COMT is an enzyme that plays a crucial role in the metabolism of catecholamines, including dopamine, adrenaline, and noradrenaline. It is essential for regulating neurotransmitter levels in the brain and is associated with psychiatric disorders such as schizophrenia. COMT also contributes to the body's pain response and has been studied in connection with pain sensitivity and various mental health conditions.

CSNK2A1 (Casein Kinase 2 Alpha 1) is a gene that encodes the alpha subunit of casein kinase 2, a serine/threonine protein kinase involved in regulating cell growth, proliferation, and signal transduction. Altered activity of CSNK2A1 has been linked to cancer development and certain developmental disorders.

CTDSPL2 (CTD Small Phosphatase Like 2) is a protein involved in regulating gene expression by modulating the activity of RNA polymerase II through dephosphorylation. This process affects transcriptional and post-transcriptional control, influencing cell cycle progression and differentiation. Although its precise functions are still under investigation, CTDSPL2 plays an important role in cellular growth regulation and may be associated with disease processes such as cancer.

DGKB (Diacylglycerol Kinase Beta) is an enzyme that plays a crucial role in lipid signalling by converting diacylglycerol into phosphatidic acid. It is involved in significant cellular processes such as insulin sensitivity and neurotransmitter signalling. Alterations in DGKB function have been associated with metabolic disorders and are researched in connection with conditions like diabetes and obesity.

DLC1 (Deleted in Liver Cancer 1) is a tumour suppressor gene that plays a key role in controlling cell behaviour. It encodes a Rho GTPase-activating protein, which helps regulate cell shape, movement, and growth. Loss or inactivation of DLC1 is common in various cancers, and restoring its function is being investigated as a potential cancer therapy.

DOK5 (Docking Protein 5) is a member of the DOK family of adaptor proteins, which serve as substrates for receptor tyrosine kinases and facilitate intracellular signal transmission. It plays a key role in pathways that regulate cell growth, differentiation, and survival. DOK5 is especially involved in neuronal development and has been associated with insulin signalling, making it important for both nervous system formation and metabolic regulation.

DUSP15 (Dual Specificity Phosphatase 15) is a gene that encodes a phosphatase involved in regulating cell signalling by dephosphorylating specific target proteins. It plays a role in pathways related to cell growth and differentiation. While its precise functions are still being explored, DUSP15 may contribute to key cellular responses and signalling mechanisms.

ENPEP (Glutamyl Aminopeptidase) is a gene that encodes an enzyme involved in regulating blood pressure and fluid balance. It acts within the angiotensin pathway by processing angiotensin II, a molecule that causes blood vessels to constrict. Changes in ENPEP activity have been associated with hypertension and cardiovascular conditions, making it a key focus of research in vascular health.

EPAS1 (Endothelial PAS Domain Protein 1) is a transcription factor, also known as HIF-2α, that assists the body in responding to low oxygen (hypoxia) in tissues. It regulates genes involved in red blood cell production, iron metabolism, and blood vessel formation. EPAS1 is associated with high-altitude adaptation and plays a role in certain diseases, including some cancers.

FBXO24 (F-Box Protein 24): FBXO24 is a gene that encodes a protein belonging to the F-box family, which is involved in protein degradation via the ubiquitin-proteasome system. It plays a role in cell cycle regulation and protein turnover, although its specific physiological functions and associations with diseases are still under investigation.

FGF10 (Fibroblast Growth Factor 10): FGF10 is a protein essential for embryonic development, particularly in the formation of limbs and lungs. It plays a crucial role in the proliferation and differentiation of cells within these tissues. Mutations in FGF10 can lead to developmental disorders such as lung aplasia.

FOXQ1 (Forkhead Box Q1): FOXQ1 is a member of the forkhead box family of transcription factors that regulate gene expression related to cell growth, proliferation, and differentiation. FOXQ1 plays a key role in the development and progression of various cancers, particularly by influencing the epithelial-mesenchymal transition process.

FUT5 (Fucosyltransferase 5): FUT5 is an enzyme involved in fucose metabolism, responsible for attaching fucose to glycans. These glycans play vital roles in cell-to-cell interaction and communication. Variations in FUT5 activity can influence immune responses and have been investigated in relation to cancer.

GCK (Glucokinase): GCK is a gene that encodes the enzyme glucokinase, a key regulator of glucose metabolism in the body. Glucokinase catalyses the first step of glucose processing in the liver and pancreatic beta cells. It acts as a glucose sensor, playing a vital role in detecting blood sugar levels, triggering insulin release, and maintaining overall glucose balance.

GPD2 (Glycerol-3-Phosphate Dehydrogenase 2): GPD2 is an enzyme that plays a crucial role in glycerol metabolism and lipid biosynthesis. It catalyses the conversion of glycerol-3-phosphate to dihydroxyacetone phosphate, a key step in lipid synthesis. This function is essential for maintaining energy storage and lipid balance in the body.

GPR83 (G Protein-Coupled Receptor 83): GPR83 (G Protein-Coupled Receptor 83) is a receptor located in the brain that belongs to the G protein-coupled receptor (GPCR) family. It plays a role in regulating appetite and maintaining energy balance, and has been studied for its involvement in feeding behaviour and metabolic disorders.

GRAMD2B (GRAM Domain Containing 2B): GRAMD2B is a protein that belongs to the GRAM domain family. These proteins play a role in cellular processes such as lipid binding and transport. Although the specific functions of GRAMD2B in human physiology are not yet fully understood, GRAM domains are generally associated with membrane-related activities.

HMGA2 (High Mobility Group AT-Hook 2): HMGA2 is a gene that encodes a protein which binds to DNA and chromatin to help regulate gene expression. It plays an important role in embryonic development and cell differentiation. Alterations in HMGA2 are associated with a range of cancers, from benign tumours such as lipomas to aggressive malignancies like certain sarcomas.

HSPA13 (Heat Shock Protein Family A (Hsp70) Member 13): HSPA13 is a gene that encodes a protein belonging to the heat shock protein family, recognised for aiding the protection of cells from stress by assisting in protein folding, repair, and degradation. Although its specific functions are less well understood, HSPA13 is believed to be involved in the cellular stress response and may play a role in conditions such as cancer and neurodegenerative diseases, where protein misfolding and stress pathways are disrupted.

HTR5A (5-Hydroxytryptamine Receptor 5A): HTR5A is a gene that encodes a serotonin receptor. Serotonin receptors are involved in various neurological processes such as mood regulation, appetite, and sleep. HTR5A specifically is believed to play a role in modulating serotonin signalling in the brain.

HUNK (Hormonally Up-Regulated Neu-Associated Kinase): HUNK is a gene that encodes a protein kinase regulated by hormonal signals. It has been associated with breast cancer, where overexpression may promote tumour growth and metastasis. By participating in intracellular signalling pathways influenced by hormones such as oestrogen, HUNK plays a significant role in cancer biology and is being explored as a potential therapeutic target.

ICA1L (Islet Cell Autoantigen 1-Like) is a gene associated with proteins involved in neuroendocrine secretion, particularly in pancreatic beta cells. It is believed to play a role in regulating insulin secretion and may be linked to autoimmune responses in diabetes. Research into ICA1L may provide insights into the development of autoimmune diabetes and potential therapeutic targets.

IGF1R (Insulin-like Growth Factor 1 Receptor) is a gene that encodes a receptor involved in mediating the effects of insulin-like growth factors. It plays a key role in regulating cell growth, survival, and metabolism. Dysregulation of IGF1R has been linked to various diseases, emphasising its importance in both developmental biology and clinical research.

IGF2 (Insulin-Like Growth Factor 2) is a protein that plays a crucial role in growth and development, particularly during the fetal stages. It is part of the insulin-like growth factor system, which affects cell growth, proliferation, and survival. IGF2 also supports muscle growth and differentiation, and its activity has been associated with certain cancers due to its role in encouraging cell proliferation.

IGLV4-60 (Immunoglobulin Lambda Variable 4-60): IGLV4-60 is a gene that represents a part of the immunoglobulin family involved in the adaptive immune response. It encodes a component of the variable region of lambda light chains in antibodies. This gene plays a key role in antigen recognition, with its diversity being essential for the immune system’s ability to respond to a wide range of pathogens.

IL16 (Interleukin 16): IL16 is a cytokine that functions as a chemoattractant for specific immune cells, helping to regulate immune responses and inflammation. It is involved in cellular signalling pathways and has been associated with various inflammatory and autoimmune conditions.

IL1RL1 (Interleukin 1 Receptor Like 1): IL1RL1 is a receptor for interleukin-33 (IL-33), a cytokine involved in inflammation and allergic reactions. Also known as ST2, IL1RL1 mediates the effects of IL-33 in the immune system and plays a crucial role in conditions such as asthma, atopic dermatitis, and other allergic diseases. Its role in the IL-33 signalling pathway makes it a potential target for therapies aimed at treating allergic and inflammatory disorders.

JCAD (Junctional Cadherin 5 Associated): JCAD is a protein that plays a crucial role in cell adhesion and vascular development. It is essential for endothelial cell function and the maintenance of vascular integrity. Changes in JCAD have been linked to cardiovascular diseases and may also affect tumour angiogenesis, emphasising its importance in both cardiovascular research and oncology.

KAT6B (Lysine Acetyltransferase 6B): KAT6B is a gene that encodes a histone acetyltransferase involved in chromatin remodelling and gene regulation. It plays key roles in development, cell cycle control, and DNA repair. Mutations in KAT6B are linked to rare genetic disorders marked by skeletal abnormalities and developmental delays, including Genitopatellar and Ohdo syndromes.

KDR: KDR (also known as VEGFR2) is a gene that plays a central role in angiogenesis — the formation of new blood vessels. It encodes a receptor for vascular endothelial growth factor (VEGF), which is essential for blood vessel growth, development, and repair. Alterations in KDR can influence processes in cancer, where angiogenesis supports tumour growth, as well as in cardiovascular diseases.

KRT73 (Keratin 73): KRT73 is a gene that encodes a type of keratin protein essential for the structural integrity of hair and nails. Keratin 73 plays a crucial role in forming the hair shaft. Changes or mutations in this gene can affect hair texture and strength, leading to various hair disorders. Research on KRT73 helps improve understanding of hair biology and potential treatments for hair-related conditions.

LRRC4 (Leucine Rich Repeat Containing 4): LRRC4 (Leucine Rich Repeat Containing 4) is a protein predominantly expressed in the brain and involved in neural development. It contributes to the formation and maintenance of the nervous system, as well as neural cell adhesion and signalling. LRRC4 has been researched in connection with brain tumours, particularly gliomas, making it a key area of interest in neurobiology and cancer research.

MFHAS1 (Malignant Fibrous Histiocytoma Amplified Sequence 1): MFHAS1 is a gene, also known as MASL1, involved in immune regulation and inflammatory processes. It has been linked to malignant fibrous histiocytoma, a rare type of cancer, and is believed to contribute to tumour development and modulation of immune responses.

MKNK2 (MAP Kinase Interacting Serine/Threonine Kinase 2): MKNK2 is a gene that encodes a kinase interacting with MAP kinases. It plays a key role in regulating protein synthesis and is involved in multiple cellular processes, including stress responses and inflammation. Dysregulation of MKNK2 has been associated with cancer and other diseases related to abnormal signalling pathways.

MTHFR (Methylenetetrahydrofolate Reductase): MTHFR is an enzyme that plays a central role in folate metabolism and the regulation of homocysteine levels. It converts 5,10-methylenetetrahydrofolate into 5-methyltetrahydrofolate, allowing the remethylation of homocysteine to methionine — a precursor to S-adenosylmethionine (SAM), the body’s primary methyl donor. Variants in the MTHFR gene, such as C677T and A1298C, can affect enzyme activity, potentially altering folate metabolism, raising homocysteine levels, and impacting methylation-dependent processes like DNA methylation and neurotransmitter synthesis.

MYOM1 (Myomesin 1): MYOM1 is a structural protein located in the M-band of sarcomeres within muscle cells. It plays a key role in muscle contraction and elasticity. Mutations in MYOM1 can affect muscle function and have been associated with muscle diseases and cardiomyopathies.

NCK2 (NCK Adaptor Protein 2): NCK2 is a protein that links receptor tyrosine kinases to signalling pathways regulating cell growth, movement, and cytoskeletal organisation. It participates in multiple signalling networks that enable cells to respond to external stimuli. Dysregulation of NCK2 has been associated with cancer progression and metastasis, highlighting its role in cell signalling and tumour development.

NDRG2 (N-Myc Downstream Regulated Gene 2): NDRG2 is a gene involved in regulating cell growth and differentiation. It acts as a tumour suppressor and plays a key role in stress responses and the inhibition of cell proliferation. NDRG2 is particularly important for brain and nervous system development, and its dysregulation has been linked to multiple types of cancer.

NRBF2 (Nuclear Receptor Binding Factor 2): NRBF2 is a protein involved in autophagy, a cellular process that degrades and recycles damaged or unnecessary components. NRBF2 plays a key role in regulating autophagy by helping to form autophagosomes, the double-membraned vesicles that capture cellular cargo for degradation. It interacts with the ULK1 kinase complex – which includes ULK1, ATG13, FIP200, and ATG101 – promoting its stability and activity, which is essential for initiating autophagy.

NT5DC2 (5'-Nucleotidase Domain Containing 2): NT5DC2 is an enzyme that may be involved in nucleotide metabolism. Although its specific biological functions have not been fully characterised, enzymes in this family generally play important roles in purine and pyrimidine metabolism, which are essential for DNA and RNA synthesis, cellular signalling, and energy transfer.

NVL (Nuclear VCP-Like): NVL is a member of the AAA-ATPase family involved in several cellular processes, including ribosome biogenesis and the response to cellular stress. It plays a role in maintaining cellular homeostasis and ensuring proper nucleolus function.

OR2B6 is a gene that encodes a protein belonging to the olfactory receptor (OR) family, which is involved in detecting and recognising odour molecules. These receptors are located on the surface of olfactory sensory neurones in the nasal cavity and play a key role in initiating olfactory signal transduction. OR2B6 specifically binds to certain odour molecules, triggering signals that are ultimately transmitted to the brain for odour perception.

PCSK2 (Proprotein Convertase Subtilisin/Kexin Type 2): PCSK2 is an enzyme involved in processing precursor proteins into their biologically active forms. It plays a crucial role in the maturation of neuropeptides and hormones within neuroendocrine tissues. Dysregulation of PCSK2 can affect the synthesis of important signalling molecules, impacting processes such as the stress response, metabolism, and growth.

PDE6C (Phosphodiesterase 6C) is a gene that encodes a subunit of the phosphodiesterase 6 enzyme, which is essential for phototransduction in the retina. This process converts light into electrical signals in photoreceptor cells, enabling vision. Mutations in PDE6C are linked to visual impairments and retinal disorders, underscoring its crucial role in visual function.

PIEZO1 (Piezo Type Mechanosensitive Ion Channel Component 1): PIEZO1 is a mechanically activated ion channel that detects physical forces such as pressure and stretch in tissues like blood vessels and the lungs. It is essential for vascular development, blood pressure regulation, and cell volume control. Variants in the PIEZO1 gene are linked to hereditary xerocytosis — a disorder characterised by dehydrated red blood cells — and other conditions affecting mechanosensation.

PLAUR (Plasminogen Activator, Urokinase Receptor) is a gene that encodes a receptor involved in proteolysis and cell migration. It facilitates tissue remodelling and wound healing by promoting the conversion of plasminogen to plasmin, an enzyme that degrades fibrin and components of the extracellular matrix. Increased PLAUR levels have been linked to tumour growth and metastasis, underscoring its role in cancer progression and its potential as a therapeutic target.

Phospholamban (PLN) is a regulatory protein found primarily in cardiac muscle cells. It plays a key role in controlling heart muscle contraction and relaxation by modulating the activity of the sarcoplasmic reticulum calcium pump (SERCA). At rest, PLN inhibits SERCA to regulate calcium levels, helping maintain calcium balance in heart cells. When stimulated, PLN is phosphorylated, which lifts this inhibition and increases calcium uptake, supporting efficient cardiac muscle relaxation and overall heart function.

POLR1F (RNA Polymerase I Subunit F): POLR1F is a key component of RNA polymerase I, responsible for transcribing ribosomal RNA (rRNA), an essential part of ribosomes. Ribosomes drive protein synthesis in cells, making POLR1F vital for cellular growth and function. Mutations or dysfunctions in POLR1F can disrupt ribosome production and function, potentially leading to diseases linked to impaired protein synthesis. Studying POLR1F helps us understand critical cellular processes related to ribosome activity and protein production.

PPARGC1B (Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-Beta): PPARGC1B is a coactivator of the PPARγ receptor that plays a central role in energy metabolism. It helps regulate genes involved in energy production, including mitochondrial biogenesis and fatty acid metabolism. This gene is important in metabolic processes and has been linked to conditions such as obesity and diabetes.

RAB1A (RAB1A, Member RAS Oncogene Family): RAB1A is a gene that encodes a protein belonging to the RAB family of small GTPases, which regulate various aspects of vesicle trafficking. RAB1A specifically controls transport between the endoplasmic reticulum and the Golgi apparatus, playing a crucial role in maintaining efficient protein transport and processing within the cell.

RHBDD3 (Rhomboid 5 Homolog 3): RHBDD3 is a gene that encodes a protein belonging to the rhomboid family, which is involved in cellular processes such as signal transduction and protein trafficking. While its specific functions are still being investigated, RHBDD3 may play a role in cell signalling and cancer biology.

SFTPA1 (Surfactant Protein A1) is a gene that encodes a protein essential for lung function. This protein plays a key role in the innate immune defence of the respiratory tract and helps reduce surface tension in the lungs, supporting breathing efficiency.

SHQ1 (SHQ1, H/ACA Ribonucleoprotein Assembly Factor): SHQ1 is a gene that encodes a protein essential for the assembly of H/ACA ribonucleoproteins (RNPs). These RNPs are involved in processing and modifying RNA, including the maturation of rRNA, snRNA, and stabilising the telomerase RNA component (TERC). SHQ1 plays a key role in the biogenesis of H/ACA RNPs, which are critical for proper cell function and genomic stability. Disruptions in SHQ1 can affect RNA processing and contribute to cellular dysfunction.

SIVA1 (SIVA1 Apoptosis-Inducing Factor) is a protein involved in regulating programmed cell death, or apoptosis. It plays a role in controlling cell survival and death pathways, helping maintain the balance between healthy cell function and the elimination of damaged cells. Research on SIVA1 focuses on understanding its impact on cellular fate and its potential links to various diseases.

SLC1A7 (Solute Carrier Family 1 Member 7): SLC1A7 is a high-affinity glutamate transporter that assists in removing glutamate from the synaptic cleft. This process is vital for preventing excitotoxicity — a damaging condition caused by excessive glutamate leading to neuronal injury. Although it has been less studied than other glutamate transporters, SLC1A7 contributes to regulating glutamatergic signalling and may be significant in neurological disorders associated with disrupted glutamate neurotransmission.

SLC35F3 (Solute Carrier Family 35 Member F3) is a gene that encodes a transporter protein from the solute carrier (SLC) family, which is involved in transporting molecules across cell membranes. While its precise function and substrates remain under investigation, SLC35F3 is thought to play a role in cellular transport and metabolic processes.

SLC7A1 (Solute Carrier Family 7 Member 1) is a gene that encodes a transporter protein responsible for the uptake of amino acids, particularly arginine and lysine. These amino acids are essential for cell growth, nitric oxide production, and various metabolic processes. SLC7A1 also plays a role in immune regulation and has been associated with certain cancers, making it a significant focus in biomedical research.

SMOC1 (SPARC Related Modular Calcium Binding 1): SMOC1 is a member of the SPARC family of matricellular proteins. It is involved in tissue remodelling and angiogenesis, playing a key role in cell-matrix interactions. SMOC1 has been linked to ocular and limb development, and mutations in this gene are associated with Waardenburg anophthalmia syndrome and other developmental disorders.

SPATA2L (Spermatogenesis-associated protein 2-like) is a protein related to SPATA2, which is known to regulate cell death and inflammation pathways. Although the precise role of SPATA2L remains under investigation, it is believed to be involved in key cellular processes such as apoptosis, autophagy, and the regulation of immune responses. SPATA2L may affect crucial signalling pathways that govern cell survival and death, contributing to the maintenance of tissue homeostasis and protection against stressors like DNA damage or infection.

SPATS2L (Spermatogenesis Associated Serine Rich 2-Like): SPATS2L is a gene associated with spermatogenesis, the process of sperm cell development. It may play a significant role in male fertility, although further research is required to fully understand its function and importance.

STAT6 (Signal Transducer And Activator Of Transcription 6) is a protein that plays a central role in immune signalling pathways, particularly those activated by cytokines such as IL-4 and IL-13. It regulates allergic inflammation by promoting the development of Th2 cells, the production of IgE antibodies, and the proliferation of mast cells. Due to its involvement in allergic reactions and asthma, STAT6 is a significant target for therapies designed to control immune responses in allergic conditions.

TCF7L2 (Transcription Factor 7-Like 2): TCF7L2 is a key regulator in the Wnt signalling pathway, which plays an important role in cell growth and development. Variants in this gene have been strongly linked to an increased risk of type 2 diabetes, likely through their impact on insulin secretion and glucose metabolism. Understanding TCF7L2 is essential for uncovering the genetic basis of diabetes and advancing potential treatments.

Thyroid Hormone Receptor Beta: THRB is a gene that encodes a receptor for thyroid hormones, which play vital roles in regulating metabolism, growth, and development. Mutations in THRB can lead to resistance to thyroid hormone (RTH), a condition characterised by reduced sensitivity to thyroid hormones, affecting metabolic processes and growth.

TNP1, or Transition Protein 1, is a protein primarily found in the nuclei of developing spermatids — the immature male germ cells — during spermiogenesis, the final stage of spermatogenesis where round spermatids mature into spermatozoa. TNP1 belongs to a family of small, highly basic transition proteins involved in chromatin remodeling during this process. Its main function is to facilitate the replacement of histones with protamines, which are specialized proteins that tightly compact DNA within the sperm nucleus.

TTC39C (Tetratricopeptide Repeat Domain 39C): TTC39C is a gene that encodes a protein belonging to the tetratricopeptide repeat family, involved in various cellular processes including the regulation of cholesterol metabolism and transport. Although its specific role is less well defined, TTC39C is being researched for its potential involvement in lipid homeostasis and metabolic disorders such as obesity and cardiovascular disease.

TYK2 (Tyrosine Kinase 2): TYK2 is a gene that encodes a tyrosine kinase enzyme involved in signalling pathways activated by various cytokines, including interferons and interleukins. It plays an important role in regulating immune responses and controlling inflammation.

UBE2G1 (Ubiquitin-conjugating Enzyme E2 G1): UBE2G1 is a member of the ubiquitin-conjugating enzyme family, playing a key role in the ubiquitin-proteasome system — a crucial cellular pathway responsible for protein degradation and turnover. UBE2G1 specifically functions in attaching ubiquitin molecules to target proteins, marking them for degradation by the proteasome. This process is essential for regulating important cellular activities such as cell cycle progression, DNA repair, and signal transduction. The activity of UBE2G1 is tightly controlled and works in coordination with other components of the ubiquitin-proteasome system to maintain protein balance and proper cellular function.

USP25 (Ubiquitin Specific Peptidase 25): USP25 is a gene that encodes an enzyme involved in the ubiquitin-proteasome pathway, which removes ubiquitin from proteins to regulate their degradation. It plays a role in various cellular processes such as signal transduction and stress response. Changes in USP25 have been linked to immune system dysregulation and may contribute to cancer development.

UTP20 (UTP20, Small Subunit Processome Component): UTP20 is a protein involved in the processing and assembly of 18S rRNA, a vital component of the small ribosomal subunit. It plays a key role in ribosome biogenesis, which is essential for protein synthesis. Dysfunction in UTP20 can affect cell growth and proliferation, with potential links to developmental disorders and cancer.

VPS35L (VPS35 Retromer Complex Component Like): VPS35L is a protein involved in the retromer complex, a crucial component of the endosomal transport pathway. It assists in recycling membrane proteins from endosomes to the Golgi apparatus or the plasma membrane. Although it has been studied less extensively than VPS35, VPS35L is believed to play a role in protein sorting and trafficking, supporting cellular homeostasis and signalling.

ZGRF1, also known as Zinc finger GRF-type containing 1, is a protein characterised by the presence of zinc finger domains — common motifs involved in binding nucleic acids and mediating protein-protein interactions. Located primarily in the cell nucleus, ZGRF1 is believed to function as a transcription factor or regulator of gene expression. Although the precise roles of ZGRF1 are still being researched, zinc finger proteins generally play key roles in various cellular processes such as gene transcription, RNA processing, and chromatin remodelling. These proteins can act as transcriptional activators or repressors by binding to specific DNA sequences.

ZNF616 is a gene that encodes a protein belonging to the zinc finger family, characterised by its DNA-binding zinc finger domains. Located in the cell nucleus, ZNF616 functions as a transcriptional regulator by binding to specific DNA sequences and influencing gene expression. It can modulate the activity of target genes by interacting with promoter or enhancer regions, either activating or repressing transcription.