DNA

ADO (Adenosine Deaminase, RNA-Specific): ADO is a gene that encodes an enzyme responsible for the RNA-specific deamination of adenosine. This enzyme catalyses the conversion of adenosine to inosine in RNA molecules, affecting RNA stability, function, and regulation. ADO plays a crucial role in RNA editing, contributing to the diversity and functionality of RNA molecules.

AEBP2 (Adipocyte Enhancer Binding Protein 2): AEBP2 is a DNA-binding transcription factor involved in regulating gene expression and adipocyte differentiation. It is also a component of the Polycomb Repressive Complex 2 (PRC2), contributing to the epigenetic silencing of genes during development and cell differentiation.

APCS (Amyloid P Component, Serum): APCS is a protein that plays a key role in the innate immune system, aiding the response to infection and injury. It binds to pathogens and damaged cells to support their removal and is also involved in amyloid plaque formation, linking it to diseases such as Alzheimer’s. Its roles in immune modulation and inflammation make it a focus of therapeutic research.

APOB (Apolipoprotein B): APOB is a key protein component of low-density lipoproteins (LDL), which transport cholesterol through the bloodstream. It exists primarily in two forms — APOB-48 and APOB-100, with APOB-100 being essential for LDL structure and binding to LDL receptors, allowing cholesterol uptake by cells. Elevated levels of APOB-containing lipoproteins are associated with an increased risk of atherosclerosis and cardiovascular disease due to plaque accumulation in the arteries.

ARHGAP9 (Rho GTPase Activating Protein 9) is a gene that encodes a protein involved in regulating Rho family GTPases—molecules that control cell shape, movement, and structure. By modulating these signalling pathways, ARHGAP9 plays a role in cell migration, adhesion, and growth. It has been studied in cancer research for its potential influence on tumour cell invasion and metastasis.

AZIN2 (Antizyme Inhibitor 2): AZIN2 is a protein that regulates the activity of ornithine decarboxylase, a key enzyme involved in polyamine biosynthesis. It acts by inhibiting antizyme, which normally suppresses ornithine decarboxylase. Polyamines are essential for cell growth and differentiation, and irregularities in their metabolism—potentially influenced by AZIN2—have been associated with cancer due to their role in cell proliferation.

BRK1 (Breakpoint cluster region kinase 1): BRK1 is a gene involved in signalling pathways that regulate cell proliferation, differentiation, and migration. As part of the breakpoint cluster region kinase family, BRK1 influences processes such as cell cycle progression, cytoskeletal organisation, and cell adhesion. It is also linked to immune regulation and oncogenic signalling, with dysregulation potentially contributing to cancer and inflammatory diseases.

CD28 (CD28 Molecule): CD28 is a co-stimulatory receptor on T cells that is essential for their full activation and survival. It plays a crucial role in the immune response, including the development of T cell memory. CD28 signalling is also a key target for immunotherapeutic drugs, particularly in the treatment of cancer and autoimmune diseases.

CD40 (Cluster of Differentiation 40): CD40 is a cell surface receptor protein that plays a central role in the immune system. It is primarily expressed on B cells and antigen-presenting cells. Activation of CD40 is essential for B cell maturation, antibody production, and the development of adaptive immunity. Mutations in CD40 or its ligand CD40L can lead to immunodeficiency disorders.

CNOT2 (CCR4-NOT Transcription Complex Subunit 2): CNOT2 is a component of the CCR4-NOT complex, which regulates gene expression by controlling mRNA turnover and degradation. It is involved in various aspects of RNA metabolism and can influence key cellular processes such as development, differentiation, and stress response.

CNTN2 (Contactin 2): CNTN2 is a neuronal cell adhesion molecule, also known as TAG-1, that plays a crucial role in the development and function of the nervous system. It is involved in the formation of neural circuits and synaptic connections. Variations or mutations in CNTN2 have been linked to neurodevelopmental disorders and may affect neurological processes such as learning and memory.

COQ5 (Coenzyme Q5 Homolog, Methyltransferase): COQ5 (Coenzyme Q5 Homolog, Methyltransferase) is an enzyme involved in the biosynthesis of coenzyme Q (CoQ), a vital molecule for mitochondrial energy production. It catalyses a crucial methylation step in the CoQ pathway. Mutations in COQ5 can cause CoQ deficiency, impacting mitochondrial function and contributing to energy metabolism disorders.

DCDC2 (Doublecortin Domain Containing 2): DCDC2 is a gene involved in neuronal migration and differentiation, particularly during brain development. It plays a significant role in cognitive processing and language development, and has been associated with dyslexia and other learning difficulties.

ECHDC3, also known as Enoyl-CoA Hydratase Domain-Containing Protein 3, is an enzyme involved in fatty acid metabolism. It contains a domain typical of enoyl-CoA hydratases, which catalyse the hydration of enoyl-CoA intermediates in the β-oxidation pathway. This pathway is a key metabolic process that breaks down fatty acids into acetyl-CoA within mitochondria and peroxisomes, supporting energy production. ECHDC3 plays an important role in facilitating fatty acid β-oxidation, which ultimately helps generate ATP, the cell’s main energy source.

ENG (Endoglin): ENG is a glycoprotein that functions as part of the TGF-beta receptor complex and plays a key role in angiogenesis, vascular development, and remodelling. Mutations in this gene are linked to hereditary haemorrhagic telangiectasia, a condition characterised by abnormal blood vessel formation.

EPB41L4A (Erythrocyte Membrane Protein Band 4.1 Like 4A): EPB41L4A is a gene that encodes a protein essential for cytoskeletal organisation and membrane stability. This protein helps maintain the structural integrity of cells, particularly red blood cells. Mutations in EPB41L4A can affect the shape of red blood cells and lead to related disorders.

FAAH (Fatty Acid Amide Hydrolase): FAAH is an enzyme that breaks down endocannabinoids, which play important roles in pain perception, mood regulation, and appetite. By modulating endocannabinoid signalling, FAAH is a target of interest for developing therapies aimed at pain relief, anxiety, and certain neurological disorders.

FAM216B (Family With Sequence Similarity 216 Member B): FAM216B is a gene about which limited information is available. Genes in the FAM216 family are believed to be involved in various cellular processes, but the exact function and role of FAM216B in human health and disease remain largely uncharacterised.

FAP (Fibroblast Activation Protein Alpha): FAP is a gene that codes for an enzyme called fibroblast activation protein alpha. This enzyme is produced by activated fibroblasts within the tumour microenvironment. It plays a significant role in tissue remodelling and is considered a potential therapeutic target in cancer treatment.

FBXL17 (F-Box and Leucine-Rich Repeat Protein 17): FBXL17 is a member of the F-box protein family, key components of the SCF (SKP1-cullin-F-box) complex. This complex plays a vital role in the ubiquitination and proteasomal degradation of target proteins. FBXL17 contributes to the regulation of cellular processes such as cell cycle progression, signal transduction, and transcription by recognising and binding phosphorylated substrates through its F-box motif and leucine-rich repeats, targeting them for degradation. Proper regulation of protein turnover by FBXL17 is essential for maintaining cellular homeostasis and function.

FBXO21 (F-Box Protein 21): FBXO21 is a gene that encodes a protein belonging to the F-box family, which plays a key role in the ubiquitin-proteasome system responsible for protein degradation. It is involved in regulating important cellular processes such as the cell cycle and signal transduction. Dysregulation of FBXO21 can affect protein homeostasis and is relevant in diseases characterised by disrupted protein turnover, including neurodegenerative disorders and cancers.

FOXP1

The FTO (Fat Mass and Obesity-Associated) gene is a key genetic factor linked to obesity and body mass index (BMI). It plays an important role in regulating metabolic processes such as energy balance and fat storage. Variations in the FTO gene can influence appetite control and how the body expends energy, making it central to understanding obesity risk and potential treatments.

GHRL (Ghrelin): GHRL is a gene that encodes ghrelin, a peptide hormone often called the “hunger hormone.” Ghrelin acts on the hypothalamus to stimulate appetite and increase food intake. It plays a crucial role in initiating meals and regulating body weight.

GNB5 (G Protein Subunit Beta 5): GNB5 is a protein component of heterotrimeric G proteins, which mediate cellular responses to external signals through signal transduction pathways. It plays crucial roles in regulating heart rate, vision, and neurotransmission, functioning in both the central and peripheral nervous systems. Variants in GNB5 have been linked to arrhythmias and neurodevelopmental disorders, emphasising its importance in studies of signal transduction and related diseases.

GOLT1A (Golgi transport 1A protein) is a member of the Golgi transport family that plays a role in regulating vesicular trafficking within cells, particularly in the Golgi apparatus. The Golgi apparatus is a key organelle responsible for processing, sorting, and modifying proteins and lipids from the endoplasmic reticulum (ER) before directing them to their final destinations. Although specific information on GOLT1A is limited, proteins in this family generally help mediate the movement of cargo vesicles between Golgi compartments and between the Golgi apparatus and other cellular locations.

GPR158 (G Protein-Coupled Receptor 158): GPR158 is a member of the G protein-coupled receptor (GPCR) family and plays a role in various physiological processes, including neuronal development and the regulation of mood and behaviour. It has been associated with mental health conditions such as depression and anxiety, highlighting its significance in brain function and emotional regulation.

HLA-DQA2 (Human Leukocyte Antigen DQ Alpha 2): HLA-DQA2 is a gene within the HLA complex that plays a central role in regulating the immune system through antigen presentation. It encodes an alpha chain that pairs with a beta chain to form the HLA-DQ molecule, which presents foreign antigens to T cells to initiate immune responses. Variations in HLA-DQA2 are associated with susceptibility to certain autoimmune diseases, emphasising its significance in immune tolerance and autoimmunity.

INHBC (Inhibin Beta C Subunit) is a member of the activin-inhibin family, which plays key roles in regulating reproduction, cell growth, and differentiation. It is involved in controlling the levels of follicle-stimulating hormone (FSH). Dysregulation of INHBC can impact reproductive health and may be linked to certain cancers.

INSR, or Insulin Receptor, is a transmembrane receptor protein that plays a key role in mediating the biological effects of insulin, a hormone involved in regulating glucose metabolism, lipid metabolism, and cellular growth. INSR is primarily located on the surface of target cells, such as adipocytes, hepatocytes, and skeletal muscle cells. Its main function is in insulin signalling pathways — when insulin binds to the extracellular domain of INSR, the receptor undergoes conformational changes that trigger autophosphorylation of tyrosine residues in its intracellular domain, activating its tyrosine kinase activity.

JHY (Jellybean Homologue Y): JHY is a protein involved in intracellular signalling pathways that regulate key aspects of cell behaviour, including proliferation, differentiation, migration, and survival. By influencing these processes, JHY helps maintain cellular homeostasis. Alterations in its expression or function have been linked to pathological conditions, including cancer.

KCNK2 (Potassium Two Pore Domain Channel Subfamily K Member 2): KCNK2 is a gene that encodes a protein forming part of a potassium channel. This channel helps regulate the electrical activity of neurones and plays a key role in controlling neuronal excitability. KCNK2 channels are important for physiological processes such as sleep regulation and anaesthesia. Mutations or dysfunctions in KCNK2 have been linked to neurological conditions like epilepsy and paroxysmal movement disorders.

LARP4B (La-Related Protein 4B): LARP4B is a member of the La-related protein (LARP) family, which is involved in regulating RNA stability and translation. Although the specific functions of LARP4B are still under investigation, LARPs generally contribute to post-transcriptional gene regulation by influencing mRNA stability, translation, and cell growth. Understanding LARP4B may offer valuable insights into gene expression control and its connections to diseases associated with RNA dysregulation.

LEMD3 (Lamin-Associated Polypeptide 2, Isoform 1): LEMD3 is a gene that encodes a protein associated with the nuclear envelope, playing a role in the structure and organisation of the nucleus. Mutations in LEMD3 have been linked to Buschke-Ollendorff syndrome, a rare genetic disorder affecting bone and skin.

LEPR (Leptin Receptor): LEPR is a receptor for the hormone leptin, playing a crucial role in regulating energy balance, including appetite and metabolism. Proper LEPR function is vital for the body to respond to leptin signals, while mutations in LEPR can lead to leptin resistance, a condition commonly linked to obesity.

LIN28B is a highly conserved RNA-binding protein that regulates key cellular processes such as stem cell maintenance, development, metabolism, and oncogenesis. A member of the LIN28 family alongside LIN28A, it modulates gene expression at the post-transcriptional level by binding specific mRNA targets. LIN28B primarily functions as a translational repressor, blocking ribosome recruitment, and can also influence mRNA stability and processing through interactions with other RNA-binding proteins and microRNAs (miRNAs).

LPCAT2 (Lysophosphatidylcholine Acyltransferase 2): LPCAT2 is an enzyme that plays a vital role in the biosynthesis and remodelling of phospholipids, which are key components of cellular membranes. Predominantly found in the endoplasmic reticulum, LPCAT2 regulates lipid metabolism and helps preserve membrane integrity. It catalyses the acylation of lysophosphatidylcholine (LPC) to generate phosphatidylcholine (PC), an essential phospholipid in cell membranes, thereby influencing membrane composition and function.

LRRN1 (Leucine-Rich Repeat Neuronal 1): LRRN1 is a gene that reflects its role in neural development. It encodes a protein belonging to the leucine-rich repeat family, which is important for protein-protein interactions and the formation and maintenance of neural connections. LRRN1 is significant for understanding neural development and may be implicated in neurodevelopmental disorders.

LSR (Lipolysis-Stimulated Lipoprotein Receptor): LSR is a gene that encodes a receptor protein involved in the uptake of lipoproteins, including chylomicrons and very-low-density lipoproteins (VLDL). It plays a crucial role in lipid metabolism and the transport of dietary fats. Dysregulation of LSR can contribute to lipid disorders and cardiovascular diseases.

LYRM7 (LYR Motif Containing 7): LYRM7 is a gene that encodes a protein involved in the assembly of mitochondrial complex I, a crucial component of the mitochondrial respiratory chain. This complex is vital for energy production via oxidative phosphorylation. Mutations or dysregulation of LYRM7 can lead to mitochondrial dysfunction, contributing to metabolic and neurodegenerative disorders. Its role in energy metabolism highlights its significance in sustaining cellular function and viability.

MACF1 (Microtubule-Actin Crosslinking Factor 1): MACF1 is a gene that encodes a cytoskeletal linker protein involved in stabilising and connecting microtubules and actin filaments. It plays an important role in cell motility, neuronal development, and cellular signalling. Dysfunction in MACF1 is associated with developmental disorders and may contribute to cancer metastasis.

MANBA (Mannosidase Beta): MANBA is a gene that encodes a lysosomal enzyme involved in the breakdown of N-linked glycoproteins. It catalyses the hydrolysis of beta-linked mannose residues, playing a key role in glycoprotein degradation. Deficiencies in MANBA activity can lead to lysosomal storage disorders, resulting in the accumulation of undegraded glycoproteins and impairing cellular function.

MCUR1 (Mitochondrial Calcium Uniporter Regulator 1): MCUR1 is a gene that reflects the regulation of the mitochondrial calcium uniporter (MCU), a protein complex responsible for calcium uptake into mitochondria. MCUR1 plays a key role in maintaining proper mitochondrial calcium levels, which are essential for energy production, cell survival, and overall mitochondrial function.

MTR (5-Methyltetrahydrofolate-Homocysteine Methyltransferase): MTR is a crucial enzyme involved in the remethylation pathway of homocysteine metabolism. It catalyses the transfer of a methyl group from 5-methyltetrahydrofolate (5-MTHF) to homocysteine, producing methionine and tetrahydrofolate (THF). Methionine is a precursor for S-adenosylmethionine (SAM), a universal methyl donor essential for various methylation reactions in the body, including DNA methylation, neurotransmitter synthesis, and histone modification. Proper MTR activity is vital for maintaining normal homocysteine levels and supporting cellular methylation processes. Dysregulation of MTR, often due to genetic mutations or deficiencies, can affect these critical functions.

MYRIP (Myosin VIIA and Rab Interacting Protein): MYRIP is a gene that encodes a protein involved in the transport and positioning of melanosomes in pigment cells and synaptic vesicles in neurones. It connects actin-based myosin VIIA to Rab proteins, supporting vesicle trafficking essential for pigmentation and synaptic communication.

NANOS1 (Nanos C2HC-Type Zinc Finger 1): NANOS1 is a protein that acts as a post-transcriptional regulator, playing a crucial role in the development of germ cells. It is vital for sustaining germ cell viability and has been associated with research on infertility and germ cell tumours.

NELL1 (NEL Like 1): is a protein involved in bone and cartilage growth and regeneration. It plays a key role in skeletal development and has been linked to osteochondral diseases and bone healing. Research on NELL1 is important for understanding skeletal biology and for developing therapies for bone-related disorders and injuries.

NR3C1 (Nuclear Receptor Subfamily 3 Group C Member 1): NR3C1 is a gene that encodes the glucocorticoid receptor, which mediates the actions of glucocorticoids — a class of steroid hormones. This receptor is essential for regulating stress responses, immune function, and metabolism. Dysregulation of NR3C1 has been linked to stress-related disorders, inflammatory conditions, and metabolic diseases, making it a key factor in the body’s adaptation to stress and inflammation.

NSG2 (Neuron Specific Gene Family Member 2): NSG2 is a protein predominantly expressed in the brain. It may have a role in neuronal development and function. Although its precise functions in neural processes are not yet fully understood, NSG2 is thought to contribute to synaptic plasticity and neuronal signalling, which can affect cognitive and sensory functions.

OPTN (Optineurin): OPTN is a protein involved in key cellular processes, including membrane trafficking, autophagy, and NF-κB signalling. Mutations in this gene are associated with glaucoma and amyotrophic lateral sclerosis (ALS). Its functions in autophagy and neuroinflammation make it an important focus in research on neurodegenerative diseases and neuronal cell death.

ORMDL3 (ORMDL Sphingolipid Biosynthesis Regulator 3): ORMDL3 is a gene that regulates the production of sphingolipids, essential components of cell membranes and signalling pathways. It helps maintain lipid balance in cells and influences inflammatory responses. Variations in ORMDL3 have been linked to a higher risk of asthma and allergic diseases, emphasising its role in immune regulation and inflammation.

PAM (Peptidylglycine Alpha-Amidating Monooxygenase): PAM is an enzyme that catalyses the amidation of peptide hormones — a key step in the maturation of neuropeptides and peptide hormones. This process is essential for proper neurotransmitter synthesis and hormone activity. Dysregulation of PAM can affect neuropeptide function and disrupt hormonal signalling.

PCDH15 (Protocadherin 15): PCDH15 is a gene that encodes a member of the protocadherin family, which plays a key role in cell-to-cell adhesion and neuronal connectivity. PCDH15 is essential for the proper functioning of sensory hair cells in the inner ear, and mutations in this gene are linked to hearing impairment and deafness.

PDCD6IP (Programmed Cell Death 6 Interacting Protein): PDCD6IP is a protein that reflects the balance and regulation of key cellular processes. Also known as ALIX, it is involved in endocytosis, membrane repair, and cell death pathways. PDCD6IP plays a critical role in multivesicular body formation and the budding of enveloped viruses, such as HIV. Dysfunctions in PDCD6IP are associated with neurodegenerative diseases and cancer, highlighting its importance in autophagy, apoptosis, and overall cellular homeostasis.

PEX2 (Peroxisomal Biogenesis Factor 2): PEX2 is a gene essential for the formation and maintenance of peroxisomes — cellular organelles involved in lipid metabolism and the detoxification of reactive oxygen species. Mutations in PEX2 can cause peroxisomal disorders, such as Zellweger syndrome, which is characterised by severe developmental and neurological impairments.

PFKM (Phosphofructokinase, Muscle): PFKM is a gene that encodes an enzyme essential for glycolysis and glucose metabolism in muscle tissue. It plays a key role in producing energy during physical activity and muscle contraction, making it vital for optimal muscle performance and function.

PIP5KL1 (Phosphatidylinositol-4-Phosphate 5-Kinase-Like 1): PIP5KL1 is a gene that encodes an enzyme involved in phosphoinositide metabolism. This enzyme catalyses the conversion of phosphatidylinositol 4-phosphate (PI4P) to phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2), a critical signalling molecule that regulates cellular processes such as membrane trafficking and cytoskeletal organisation.

PKD2L1 (Polycystic Kidney Disease 2-Like 1): PKD2L1 is a transmembrane protein belonging to the polycystic kidney disease family, primarily located in sensory neurons of the peripheral nervous system and certain epithelial cells. It plays a crucial role in chemosensation and mechanosensation, particularly in detecting sour taste. Functioning as a non-selective cation channel, PKD2L1 facilitates ion influx in response to extracellular stimuli, initiating cellular responses. It is also involved in processes such as gastrointestinal sensory signalling and blood pressure regulation.

PLEKHM1 (Pleckstrin Homology Domain-Containing Family M Member 1): PLEKHM1 is a protein involved in autophagy and lysosome function. It plays a key role in the fusion of autophagosomes with lysosomes, an important step in the autophagic process. Mutations in PLEKHM1 have been linked to osteopetrosis, a rare bone disorder.

POCD5 (Postoperative Cognitive Dysfunction 5): POCD5 is a gene associated with postoperative cognitive dysfunction, a condition characterised by cognitive decline following surgery. Research is ongoing to understand the specific mechanisms and factors that contribute to this condition.

PON2 (Paraoxonase 2): PON2 is a gene that encodes an enzyme belonging to the paraoxonase family, which plays a role in detoxification and antioxidant defence. This enzyme helps protect cells against oxidative stress and lipid peroxidation, making it important for cardiovascular health and other conditions related to oxidative damage.

PRKAG2 (Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2): PRKAG2 encodes a regulatory subunit of AMP-activated protein kinase (AMPK), a key enzyme involved in regulating cellular energy. It plays a role in sensing the cell’s energy status and activating pathways that help to restore energy balance.

PRKG1 (Protein Kinase, cGMP-Dependent, Type I): PRKG1 is a gene that encodes a serine/threonine-specific protein kinase, serving as a key effector in cyclic guanosine monophosphate (cGMP) signalling. It plays an important role in regulating vascular smooth muscle tone, platelet function, and cardiac contractility, thereby contributing to cardiovascular homeostasis. By phosphorylating target proteins, PRKG1 influences processes such as smooth muscle relaxation, protection against myocardial damage, and inhibition of platelet aggregation, with its activity linked to cardiovascular health and disease.

PSAP (Prosaposin): PSAP is a precursor protein that is processed into saposins, which are essential for the breakdown of lipids within lysosomes. These saposins play a key role in preventing the accumulation of complex lipids in cells. Deficiencies or mutations in PSAP can lead to lysosomal storage disorders, including Gaucher disease, Fabry disease, and metachromatic leukodystrophy.

PSD3 (Pleckstrin And Sec7 Domain Containing 3) is a gene that encodes a protein involved in intracellular trafficking and signalling. It contains a Sec7 domain, which is associated with guanine nucleotide exchange factors that activate ARF GTPases, key players in vesicle formation and trafficking. Dysfunction in PSD3 may impact cellular communication and transport processes.

PSMC1 (Proteasome 26S Subunit, ATPase 1): PSMC1 is a gene that encodes a protein component of the 26S proteasome, which is responsible for degrading ubiquitinated proteins. It plays a key role in maintaining protein homeostasis within cells by removing damaged or misfolded proteins and contributes to the regulation of cellular processes such as the cell cycle and stress responses.

RALGPS2 (Ras Protein Activator Like GTPase 2): RALGPS2 is a gene that encodes a protein involved in activating Ras GTPases, which are key regulators of cell growth and differentiation. By promoting Ras GTPase activity, RALGPS2 plays a role in cellular signalling pathways that govern essential processes such as cell proliferation and survival.

RNF220 (Ring Finger Protein 220): RNF220 is a protein that belongs to the ring finger family, recognised for its ring finger domain involved in protein interactions and ubiquitination. It functions as an E3 ubiquitin ligase, playing a key role in the ubiquitin-proteasome system responsible for protein degradation and cellular homeostasis. RNF220 helps regulate important cellular activities such as signal transduction, gene expression, and the cell cycle. Disruptions in RNF220 function have been linked to diseases including cancer and neurodegenerative disorders.

rs2129588: Similarly, rs2129588 is a single nucleotide polymorphism (SNP), a common form of genetic variation among individuals. Each SNP represents a change in a single DNA building block, or nucleotide, such as substituting cytosine (C) with thymine (T). Like other SNPs, rs2129588 can serve as a biological marker, aiding researchers in identifying genes linked to disease and supporting studies in genomics, pharmacogenomics, and population genetics.

SAMM50 (Sorting and Assembly Machinery Component 50): SAMM50 is a gene that plays a key role in mitochondrial biology. It is an essential part of the mitochondrial protein import and assembly machinery, ensuring proper localisation and function of proteins within the mitochondria. By supporting these processes, SAMM50 is crucial for cellular energy production and overall mitochondrial function.

SEC31B (SEC31 Homolog B, COPII Coat Complex Component): SEC31B is a protein that forms a crucial part of the COPII complex, which enables the transport of proteins from the endoplasmic reticulum (ER) to the Golgi apparatus. It is vital for correct protein secretion and the preservation of organelle integrity. Mutations in SEC31B can disrupt protein transport and lead to ER stress-related conditions.

SLC12A1 (Solute Carrier Family 12 Member 1): SLC12A1 is a transporter protein belonging to the solute carrier (SLC) family. It plays a key role in the kidney by facilitating the reabsorption of sodium and chloride ions. This function is essential for maintaining electrolyte balance and regulating blood pressure. In the complex filtration process of the renal system, SLC12A1 ensures precise ion reabsorption to support overall bodily homeostasis.

SLC30A8 (Solute Carrier Family 30 Member 8): SLC30A8 is a protein involved in the transport of zinc and the secretion of insulin from pancreatic beta cells. It plays a key role in maintaining glucose homeostasis and is considered a potential target for the treatment of type 2 diabetes.

SLC35F1 (Solute Carrier Family 35 Member F1) is a gene that encodes a protein involved in transporting nucleotide sugars across cellular membranes. These sugars are essential for glycosylation — a key process that modifies proteins, affecting their folding, stability, and function. By supporting proper glycosylation, SLC35F1 plays a vital role in maintaining cellular function, immune response, and potentially influencing disease processes such as cancer.

SLC39A8 (Solute Carrier Family 39 Member 8) is a gene that encodes a transporter protein responsible for the cellular uptake of vital divalent metals such as zinc and manganese. This protein helps maintain metal ion balance, which is crucial for immune function, brain development, and other biological processes. Variations in SLC39A8 have been associated with several health conditions, including congenital disorders affecting glycosylation.

SLITRK1 (SLIT and NTRK-Like Family Member 1): SLITRK1 is a gene that encodes a protein belonging to the SLITRK family. This protein plays a crucial role in neuronal development and synaptic function. SLITRK1 is involved in processes such as neurite outgrowth and the formation and maintenance of neuronal connections.

SOCS2 (Suppressor of Cytokine Signalling 2) is a protein that regulates the cytokine signalling pathway, helping to maintain immune balance and prevent excessive inflammation. It modulates signals from growth hormones and various cytokines, influencing cell growth, differentiation, and survival.

ST18 (Suppression of Tumourigenicity 18): ST18 is a gene associated with tumour suppression and the regulation of inflammation. It may help control cell growth and modulate immune responses, contributing to the prevention of tumour development.

SUOX (Sulfite Oxidase): SUOX codes for an enzyme essential in the metabolism of sulphur-containing amino acids. It catalyses the final step in the breakdown of cysteine and methionine by converting sulphite into sulphate, which is then excreted in the urine. Proper SUOX activity prevents the accumulation of sulphite, which can cause neurological damage and physical abnormalities known as sulphite oxidase deficiency, highlighting the enzyme’s vital role in amino acid metabolism and the prevention of neurotoxicity.

SYNDIG1 (Synapse Differentiation Inducing 1): SYNDIG1 is a protein involved in the formation and differentiation of synapses within the nervous system. It plays a crucial role in synaptic plasticity and neuronal communication, both vital for learning and memory.

SYT10 (Synaptotagmin X): SYT10 is a member of the synaptotagmin family involved in regulating neurotransmitter release and intracellular signalling. It functions as a calcium sensor that modulates calcium-dependent exocytosis, particularly in non-neuronal tissues. SYT10 plays a key role in the release of neuropeptides and hormones in response to intracellular calcium levels. Its functions in neurotransmission and synaptic plasticity suggest potential relevance to neurological conditions and cognitive processes. Dysregulation of SYT10 has been linked to various disorders.

TBKBP1 (TANK-Binding Kinase 1 Binding Protein 1): TBKBP1 is a scaffold protein that plays a central role in regulating innate immunity and inflammatory responses. Also known as SINTBAD, it interacts with the kinases TBK1 and IKKε, contributing to antiviral defence and the production of type I interferons. TBKBP1’s involvement in modulating immune signalling pathways highlights its significance in immune function and its potential as a therapeutic target in inflammatory and autoimmune conditions.

TBX20 (T-Box 20): TBX20 is a gene that encodes a transcription factor essential for heart development and function. It plays a key role in cardiac cell differentiation and heart morphogenesis. Mutations in TBX20 are associated with congenital heart defects and cardiomyopathies.

TBX3 (T-Box Transcription Factor 3): TBX3 is a transcription factor that plays a crucial role in embryonic development, regulating organogenesis including the formation of limbs, heart, and mammary glands. Mutations or dysregulation of TBX3 can result in developmental disorders such as ulnar-mammary syndrome. It is also involved in cancer, where it may function as a transcriptional repressor to inhibit cellular senescence and promote cell proliferation.

TENM4 (Teneurin Transmembrane Protein 4): TENM4 is a member of the teneurin family, involved in neuronal development and function. It plays a key role in cell–cell adhesion and communication within the nervous system and has been linked to developmental processes and neurological disorders.

Tex26 (Testis Expressed 26): Tex26 is a gene primarily expressed in the testis and is believed to play a role in testicular function and development. Although its specific functions are not yet fully understood, Tex26 is regarded as important in reproductive biology and may be significant in fertility-related research.

TNFRSF1A (Tumour Necrosis Factor Receptor Superfamily Member 1A): TNFRSF1A is a gene that encodes a receptor in the TNF receptor superfamily, which plays a key role in mediating cellular responses to tumour necrosis factor-alpha (TNF-α). This receptor is involved in regulating inflammation, immune responses, apoptosis, and cell proliferation. By binding TNF-α, TNFRSF1A can trigger signalling pathways that influence cell survival, death, and inflammatory processes, highlighting its importance in immune system regulation and disease mechanisms.

TNFSF10 (Tumor Necrosis Factor Superfamily Member 10): TNFSF10, also known as TRAIL, is a gene that encodes a protein involved in inducing apoptosis, particularly in tumour cells. It plays a role in immune surveillance and has potential applications in cancer therapy by selectively triggering cell death in cancer cells while sparing normal cells. TNFSF10 is actively studied for its therapeutic potential in oncology.

TRAF5 (TNF Receptor-Associated Factor 5): TRAF5 is a gene that encodes a protein belonging to the TRAF family, which mediates signal transduction from receptors such as TNF and Toll-like receptors. TRAF5 plays a key role in activating the NF-κB pathway, which is essential for immune regulation, cell survival, and differentiation. Dysregulation of TRAF5 may contribute to autoimmune diseases and represents a potential target for therapeutic intervention in immune disorders.

TTC28 is a gene that encodes a protein containing tetratricopeptide repeat (TPR) domains, which facilitate protein-protein interactions. While its specific functions are not fully characterised, TTC28 may play a role in regulating transcription, the cell cycle, and protein transport. Ongoing research is investigating its potential involvement in cellular pathways and disease processes.

TTC6 (Tetratricopeptide Repeat Domain 6): TTC6 is a gene that encodes a protein containing tetratricopeptide repeat domains, which are known for facilitating protein-protein interactions. TTC6 is involved in several cellular processes, including protein trafficking and signalling pathways. Its precise functions in human physiology are still under investigation.

TUSC1 (Tumour Suppressor Candidate 1): TUSC1 is a gene believed to function as a tumour suppressor, playing a role in controlling cell growth and promoting apoptosis. Reduced expression of TUSC1 has been observed in various cancers, supporting its potential protective role against cancer development.

UCP3 (Uncoupling Protein 3): UCP3 is a mitochondrial protein that plays a role in thermogenesis and energy balance. It is involved in regulating body weight and metabolism, and its activity can influence the risk of obesity and metabolic disorders.

UPB1 (Beta-Ureidopropionase 1): UPB1 is an enzyme involved in the breakdown of pyrimidines, which are the building blocks of nucleotides in the body. Proper UPB1 function is essential for nucleotide metabolism, and deficiencies can cause beta-ureidopropionase deficiency, a rare condition associated with neurological symptoms and developmental delays.

USP47 (Ubiquitin Specific Peptidase 47): USP47 is an enzyme that removes ubiquitin from ubiquitinated proteins, helping regulate their degradation. It plays key roles in DNA repair, cell cycle control, and signal transduction by preserving protein stability. Dysregulation of USP47 has been linked to various cancers and other diseases, influencing processes such as cell growth and programmed cell death.

WSB1 (WD Repeat And SOCS Box Containing 1): WSB1 is a member of the SOCS (Suppressor of Cytokine Signalling) box family, which are involved in protein degradation pathways. It plays a key role in regulating various signalling pathways and is implicated in the response to hypoxia as well as in the regulation of thyroid hormone activation.

ZCCHC14 (Zinc Finger, CCHC Domain Containing 14): ZCCHC14 is a gene that encodes a protein featuring zinc finger and CCHC domains. These domains indicate a role in nucleic acid binding and regulation. Although the specific functions of ZCCHC14 remain under investigation, ongoing research seeks to elucidate its role in cellular processes.

ZFP64 (ZFP64 Zinc Finger Protein): ZFP64 is a zinc finger protein involved in gene regulation. Zinc finger proteins can bind to specific DNA sequences and influence gene expression. The specific targets and functions of ZFP64 in cellular processes are still under investigation.

ZKSCAN5 (Zinc Finger with KRAB and SCAN Domains 5): ZKSCAN5 encodes a zinc finger protein containing KRAB (Krüppel-associated box) and SCAN (SRE-ZBP, CTfin51, AW-1, and Number 18 cDNA) domains. These domains play important roles in transcriptional regulation and DNA binding. The specific functions of ZKSCAN5 are still under investigation.

ZNF438, also known as Zinc Finger Protein 438, is a member of the zinc finger protein family, distinguished by zinc finger domains that facilitate DNA binding and protein interactions. These proteins play crucial roles in regulating gene expression, chromatin remodelling, and RNA processing. ZNF438 primarily acts as a transcription factor, binding to specific DNA sequences to regulate the activity of target genes, often collaborating with other transcriptional regulators and chromatin modifiers to precisely control cellular processes.