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AADAT (aminoadipate aminotransferase) is an enzyme that plays a vital role in the breakdown of lysine within the body. Primarily located in the mitochondria, it is involved in the alpha-aminoadipic semialdehyde (α-AASA) pathway, converting α-AASA to alpha-aminoadipate (AAA) — a crucial step in lysine degradation. This process helps regulate lysine levels and produces intermediates utilised in other metabolic pathways.

ACAN (Aggrecan) is a gene that encodes aggrecan, a key proteoglycan found in the extracellular matrix of cartilage and other connective tissues. Aggrecan is essential for maintaining cartilage structure and ensuring proper joint function. Mutations in ACAN can disrupt bone and cartilage development, leading to skeletal disorders such as spondyloepimetaphyseal dysplasia.

ADAM32 (ADAM Metallopeptidase Domain 32) is a member of the ADAM family of enzymes, recognised for their roles in cell adhesion and the proteolytic processing of cell surface proteins. These enzymes contribute to key biological processes such as cell signalling, fertilisation, and cell migration. While the specific functions of ADAM32 are still being researched, it is thought to be involved in tissue remodelling, cell-cell interactions, and potentially reproductive functions.

ADM (Adrenomedullin) is a peptide hormone involved in regulating the cardiovascular system and circulation. It helps control blood pressure through its vasodilatory effects and supports fluid balance. ADM also plays a role in modulating immune responses and may have protective functions in cardiovascular health.

AGPAT2 (1-acylglycerol-3-phosphate O-acyltransferase 2) is a vital enzyme involved in lipid metabolism, specifically in the synthesis of phospholipids and triglycerides. It catalyses the conversion of lysophosphatidic acid (LPA) to phosphatidic acid (PA), a crucial step in the Kennedy pathway for triacylglycerol production. AGPAT2 plays significant roles in adipocyte differentiation, lipid storage, and membrane formation. Dysregulation of AGPAT2 activity has been linked to metabolic conditions such as obesity, insulin resistance, and dyslipidaemia, while mutations in the AGPAT2 gene are associated with congenital generalised lipodystrophy type 1 (CGL1), a rare genetic disorder affecting fat distribution.

AGPAT5 (1-Acylglycerol-3-Phosphate O-Acyltransferase 5): AGPAT5 is an enzyme that plays a key role in the biosynthesis of phospholipids, essential components of cell membranes. It catalyses the conversion of lysophosphatidic acid to phosphatidic acid, a critical step in producing various phospholipids. Dysregulation of AGPAT5 can disrupt lipid metabolism and is associated with conditions such as obesity and lipodystrophy.

AKNA (AT-Hook Transcription Factor) is a gene that encodes a transcription factor involved in regulating immune function, particularly in the development of lymphoid cells. It helps control the expression of genes related to cell growth and differentiation. Dysregulation of AKNA has been associated with autoimmune diseases and lymphomas, emphasising its role in immune regulation and cancer.

ALCAM (Activated Leukocyte Cell Adhesion Molecule) is a protein that plays a vital role in cell-to-cell adhesion, allowing cells to interact, migrate, and target specific locations within the body. It is involved in essential processes such as nerve development, immune regulation, and tissue repair. Dysregulation of ALCAM has been associated with cancer metastasis, autoimmune disorders, and other pathological conditions.

ANAPC4 (Anaphase Promoting Complex Subunit 4) is a protein that forms part of the anaphase-promoting complex/cyclosome (APC/C), a vital regulator of the cell cycle. It assists in tagging specific proteins for degradation, thereby controlling the timely progression of cells through various stages of division. Proper functioning of ANAPC4 is essential for normal cell cycle regulation, and its dysregulation may contribute to abnormalities associated with cancer development and progression.

ARHGAP32 is a protein that regulates the activity of Rho GTPases, key molecules involved in controlling cell shape, movement, and adhesion. By affecting the dynamics of the actin cytoskeleton, ARHGAP32 plays a crucial role in processes such as cell migration and proliferation. Its function is particularly significant in neurological development and disorders, as well as in cancer, where cell migration and invasion are vital.

ATG12 (Autophagy Related 12) is a gene essential for the autophagy process — a cellular system that breaks down and recycles damaged components. ATG12 forms a complex with ATG5, a critical step in autophagosome formation. This function supports cell survival under stress and helps maintain cellular health. Disruptions in ATG12 activity have been associated with conditions such as cancer and neurodegenerative diseases.

BACH2 (BTB and CNC Homology 1, Basic Leucine Zipper Transcription Factor 2): BACH2 is a gene that encodes a transcription factor involved in regulating the immune system. It plays a key role in maintaining immune balance by controlling the development and function of important immune cells, such as B cells and T cells. Dysregulation of BACH2 has been linked to autoimmune diseases and increased susceptibility to infections.

BEND5 (BEN Domain Containing 5) is a gene that encodes a protein thought to be involved in chromatin organisation and gene regulation. Its BEN domain indicates a role in DNA binding and controlling gene expression. Although its precise functions are still under investigation, BEND5 may affect key cellular processes and disease mechanisms.

BLMH (Bleomycin Hydrolase): BLMH is an enzyme that plays a key role in metabolising and detoxifying the chemotherapeutic drug bleomycin. Bleomycin works by causing DNA damage in cancer cells but can also lead to lung toxicity as a side effect. BLMH helps break down bleomycin into harmless compounds, reducing this risk. Understanding BLMH’s function is important for improving cancer treatment and managing side effects, especially in patients receiving bleomycin-based therapies. Researchers continue to investigate ways to enhance the safety and effectiveness of these treatments.

BLOC1S2 (Biogenesis of Lysosomal Organelles Complex-1, Subunit 2) is a protein component of a complex that supports the formation of lysosome-related organelles, including melanosomes and platelet dense granules. Proper function of BLOC1S2 is essential for pigmentation processes and platelet function, while defects can lead to disorders affecting skin colour and blood clotting.

CACNB2, also known as Calcium Channel Voltage-Dependent Beta 2 Subunit, is a protein that plays a key role in the function of voltage-gated calcium channels (VGCCs). These channels regulate calcium entry into cells in response to changes in membrane potential, influencing vital processes such as neurotransmitter release, muscle contraction, and gene expression. CACNB2 serves primarily as a regulatory subunit of VGCCs, interacting with the pore-forming alpha subunits to modulate their voltage sensitivity, channel opening and closing kinetics, and calcium conductance.

CAMK1D (Calcium/Calmodulin Dependent Protein Kinase ID): CAMK1D is a member of the calcium/calmodulin-dependent protein kinase family, involved in mediating cellular responses to calcium signals. It plays a role in regulating gene expression, the cell cycle, and metabolism. CAMK1D has been linked to diabetes and cardiovascular diseases, emphasising its importance in metabolic regulation and cellular signalling.

CANT1 (Calcium Activated Nucleotidase 1): CANT1 is a gene that encodes an enzyme involved in the hydrolysis of UDP, a nucleotide essential for glycosaminoglycan synthesis. Mutations in CANT1 are associated with skeletal disorders such as Desbuquois dysplasia, highlighting its role in bone development and cartilage formation.

CBLL1 (Cbl Proto-Oncogene Like 1): CBLL1 is a gene that encodes a protein related to the Cbl family, which plays a role in signal transduction and regulation of cellular activities. This protein is involved in the ubiquitin-proteasome pathway, helping control protein degradation and turnover within the cell.

CCDC138 (Coiled-Coil Domain Containing 138): CCDC138 is a protein that is not yet well characterised but is potentially involved in cellular structure due to its coiled-coil domain. These domains often play a role in protein-protein interactions and cytoskeletal organisation. Further research is required to clarify its specific functions and its relevance to health and disease.

CCDC167 (Coiled-Coil Domain Containing 167): CCDC167 is a gene that encodes a protein featuring a coiled-coil domain, a structural motif known for facilitating protein-protein interactions. While its precise biological roles are still under investigation, CCDC167 may be involved in significant cellular processes yet to be fully characterised.

CD101 (CD101 Molecule): CD101 is a cell surface glycoprotein involved in immune regulation. It plays a role in both activation and suppression of immune cells, particularly in autoimmune diseases and immune responses. Its expression on T cells and other immune cells is crucial for modulating the activity of the immune system.

CETP (Cholesteryl Ester Transfer Protein): CETP is a protein that plays a key role in lipid metabolism by facilitating the transfer of cholesteryl esters and triglycerides between lipoproteins. It influences the composition of HDL (high-density lipoprotein) and LDL (low-density lipoprotein), making it important in cardiovascular health. CETP inhibitors have been studied as potential treatments for atherosclerosis due to their ability to increase HDL cholesterol levels.

CHODL (Chondrolectin) is a gene that encodes a protein potentially involved in cell adhesion and chondrocyte differentiation. Whilst its precise function is not yet fully understood, evidence suggests it may play a role in cartilage formation and musculoskeletal development.

CHRNA4 (Cholinergic Receptor Nicotinic Alpha 4 Subunit) is a gene that encodes a subunit of the nicotinic acetylcholine receptor, which plays a key role in neurotransmission within the nervous system. This receptor is important for modulating neuronal excitability and synaptic communication. Mutations in CHRNA4 have been associated with certain forms of epilepsy and other neurological disorders, highlighting its critical function in brain activity.

CHRNB3 (Cholinergic Receptor Nicotinic Beta 3 Subunit) is a protein that forms part of the nicotinic acetylcholine receptor, which plays a key role in cholinergic neurotransmission. Variations in the CHRNB3 gene have been linked to nicotine dependence and related behavioural traits, suggesting its involvement in the brain’s addiction pathways and neural circuitry regulation.

CLPTM1 (Cleft Lip and Palate Transmembrane Protein 1): CLPTM1 is a transmembrane protein involved in key cellular processes such as cell proliferation, apoptosis, and carcinogenesis. While its exact function is not yet fully understood, research suggests a potential role in cancer development and progression. CLPTM1 expression has been linked to several cancers, including lung, pancreatic, and ovarian cancers, where it may contribute to tumour growth and metastasis. It is also associated with smoking-related cancers due to its interaction with tobacco-related carcinogens. Understanding the molecular mechanisms of CLPTM1 could provide valuable insights into cancer biology and therapeutic approaches.

CTLA4 (Cytotoxic T-Lymphocyte-Associated Protein 4) is a gene that encodes a protein involved in downregulating immune responses by inhibiting T-cell activation. It competes with CD28 for binding to CD80/CD86 on antigen-presenting cells, helping to maintain immune balance and prevent overactivation. Dysregulation of CTLA4 is linked to autoimmune conditions and impaired immune tolerance.

CUBN (Cubilin) is a multifunctional receptor protein involved in the absorption and transport of key nutrients, including vitamin B12 and various proteins such as albumin. It plays a vital role in the kidneys and intestines, where it helps reabsorb filtered proteins and supports nutrient uptake. In the kidney, CUBN works alongside megalin to maintain protein balance, while in the gut, it is essential for the efficient transport of vitamin B12, supporting normal metabolism and cellular function.

CXCL5 (C-X-C motif chemokine ligand 5) is a signalling protein that helps recruit neutrophils — a type of white blood cell — to areas of inflammation or injury. It plays a key role in the body’s innate immune defence and contributes to inflammatory processes in conditions ranging from infections to chronic inflammatory diseases. CXCL5 is also linked to cancer progression, where it can promote tumour growth and metastasis by attracting and activating neutrophils within the tumour environment.

CYP19A1, also known as aromatase, is an enzyme that facilitates the conversion of androgens (such as testosterone) into oestrogens (such as estradiol). This enzyme plays a key role in oestrogen biosynthesis, which is essential for sexual development, reproduction, bone metabolism, and cardiovascular health. CYP19A1 is expressed in multiple tissues, including the ovaries, testes, placenta, adipose tissue, and brain. In females, it is primarily responsible for producing oestrogen in the ovaries by converting androgens from the adrenal glands.

CYP4F11 (Cytochrome P450 Family 4 Subfamily F Member 11): CYP4F11 is an enzyme that belongs to the cytochrome P450 family. It plays a crucial role in the oxidation of fatty acids and the metabolism of drugs. The function of CYP4F11 in lipid processing and drug detoxification is vital for understanding individual differences in drug responses and the risk of diseases associated with lipid metabolism.

CYP4F2 (Cytochrome P450 Family 4 Subfamily F Member 2) is an enzyme involved in the metabolism of fatty acids, vitamin K, eicosanoids, and various drugs and toxins. It plays a role in regulating blood clotting and inflammation. Genetic variations in CYP4F2 can influence how the body metabolises certain medications, particularly anticoagulants.

DACH1 (Dachshund Homolog 1) is a transcription factor that helps regulate gene expression in cells. It plays important roles in processes such as development and cell differentiation. Depending on the context, especially in different types of cancer, DACH1 can function either as a tumour suppressor or an oncogene.

DEF8 (Differentially Expressed in FDCP 8 Homolog) is a gene involved in endocytic trafficking and cellular signalling. It acts as a scaffold protein, helping to coordinate interactions between signalling molecules and endosomes—crucial for proper receptor function and cell communication. Disruptions in DEF8 activity have been associated with cancer and immune-related conditions.

DHFR (Dihydrofolate Reductase) is an enzyme that plays a vital role in DNA synthesis and repair. It catalyses the conversion of dihydrofolate to tetrahydrofolate, a necessary cofactor for producing purines, thymidylate, and certain amino acids. This process is essential for cell growth and division, making DHFR a critical target in cancer treatment, where inhibitors like methotrexate block its activity to stop rapidly dividing cells.

DIO3, or Type 3 Deiodinase, is an important enzyme that helps regulate thyroid hormone activity in the body. Found mainly in tissues such as the liver, brain, and placenta, DIO3 controls thyroid hormone levels by converting active hormones into inactive forms. This process helps adjust hormone signalling in specific tissues, ensuring proper metabolic regulation and maintaining balanced thyroid function.

DKK1 (Dickkopf-1) is a secreted protein that acts as an inhibitor of the Wnt signalling pathway, which plays a crucial role in regulating cell growth, development, and bone formation. By preventing Wnt from binding to its receptors, DKK1 affects processes such as cell differentiation, proliferation, and bone density. Its function is associated with conditions like osteoporosis and various cancers, making it a potential target for therapeutic approaches.

DPYD (Dihydropyrimidine Dehydrogenase): DPYD is an enzyme responsible for metabolising fluoropyrimidine drugs, such as 5-fluorouracil (5-FU) and capecitabine, commonly used in cancer treatment. Genetic variations in DPYD can lead to reduced enzyme activity, increasing the risk of severe toxicity, including bone marrow suppression and gastrointestinal side effects. Testing DPYD helps identify individuals who require dose adjustments or alternative treatments to improve safety and effectiveness.

ETV3 (ETS Variant Transcription Factor 3) is a member of the ETS family of transcription factors, which regulate gene expression essential for cell growth, development, and differentiation. ETV3 primarily acts as a transcriptional repressor and plays important roles in controlling immune responses and other biological processes.

FCRL3 (Fc Receptor-Like 3) is a protein predominantly expressed in B cells and belongs to the Fc receptor-like (FCRL) family. It plays a role in regulating B cell receptor signalling and antibody production, affecting immune system activity and potentially contributing to the development of autoimmune diseases.

FFAR4 (Free Fatty Acid Receptor 4) is a receptor that binds omega-3 fatty acids and plays a key role in regulating metabolism and inflammation. It helps improve insulin sensitivity, reduce inflammatory responses, and control appetite. FFAR4 is being researched as a promising target for treating metabolic conditions such as obesity and type 2 diabetes.

FGGY (FGGY Carbohydrate Kinase Domain Containing) is a gene that encodes a protein involved in carbohydrate metabolism. Although its specific functions are not yet fully understood, proteins in this family generally play roles in energy production and may be associated with metabolic processes and disorders.

FOXA2 (Forkhead Box A2): FOXA2 is a transcription factor that plays a crucial role in the development and function of various tissues, including the liver, pancreas, and lungs. It regulates genes involved in metabolism, development, and cell differentiation. In the pancreas, FOXA2 is vital for the formation and proper function of insulin-producing beta cells, helping to maintain glucose balance by controlling genes related to insulin secretion and glucose metabolism.

FSHR, or Follicle-Stimulating Hormone Receptor, is a receptor protein primarily located on ovarian granulosa cells in females and Sertoli cells in males. It plays a crucial role in reproductive function by mediating the effects of follicle-stimulating hormone (FSH), which is secreted by the anterior pituitary gland. FSHR is vital for processes such as folliculogenesis—the growth and maturation of ovarian follicles in females—by activating signalling pathways that encourage cell growth and development.

FUCA1 (Alpha-L-Fucosidase 1): FUCA1 (Alpha-L-Fucosidase 1) is a gene that encodes an enzyme responsible for breaking down fucose, a sugar component found in complex carbohydrates. This enzyme plays a key role in metabolic processes, and deficiencies in FUCA1 can cause fucosidosis, a rare lysosomal storage disorder. Studying FUCA1 helps improve understanding of metabolic pathways and related disorders.

FYB2 (FYN Binding Protein 2): FYB2 is a protein that functions as an adaptor involved in signal transduction pathways within immune cells. Also known as ADAP2, it facilitates interactions between various signalling molecules and plays a key role in regulating immune cell activation and response. Understanding FYB2’s function is essential for exploring mechanisms of immune regulation and related disorders.

FZD10 (Frizzled Class Receptor 10): FZD10 is a receptor that binds Wnt signalling proteins, playing a key role in embryonic development, cell proliferation, and differentiation. It is especially involved in the Wnt/β-catenin signalling pathway and has been linked to cancer development, particularly when Wnt signalling is dysregulated.

FZD8 (Frizzled Class Receptor 8): FZD8 is a gene that encodes a receptor for Wnt signalling proteins. It plays a crucial role in embryonic development and cell signalling pathways. FZD8 is essential for processes such as cell differentiation, proliferation, and polarity. Abnormalities in FZD8 signalling are linked to developmental defects and several types of cancer.

G2E3 (G2/M-Phase Specific E3 Ubiquitin Protein Ligase): G2E3 is a gene that encodes an E3 ubiquitin ligase involved in regulating the cell cycle, particularly during the G2/M phase transition. It assists in tagging proteins for degradation, thereby controlling key cell cycle regulators. Dysregulation of G2E3 may result in cell cycle disturbances and contribute to the development of cancer.

GBP3 (Guanylate Binding Protein 3) is a member of the guanylate-binding protein family that plays a key role in the immune system. It is particularly important for defending against intracellular pathogens, including viruses and bacteria. GBP3 also helps regulate inflammatory responses during infections.

GCKR (Glucokinase Regulator): GCKR is a gene that encodes a protein responsible for regulating glucokinase, an enzyme essential in glucose metabolism. Variations in GCKR can affect glucose homeostasis and have been linked to diabetes and other metabolic disorders.

GNG11 (G Protein Subunit Gamma 11): GNG11 (G Protein Subunit Gamma 11) is a gamma subunit of heterotrimeric G proteins, which are crucial components in intracellular signalling pathways activated by G protein-coupled receptors (GPCRs). GNG11 assists in modulating signal transduction across cell membranes, affecting various physiological processes such as sensory perception, immune response, and cell growth. Its role is vital for transmitting signals from outside the cell to the inside, enabling appropriate cellular responses.

GNMT (Glycine N-Methyltransferase) is an essential enzyme involved in methionine metabolism and liver detoxification. It helps regulate homocysteine levels by converting excess methionine into sarcosine, preventing harmful methionine accumulation and supporting liver health. Dysfunction of GNMT is linked to liver conditions such as fatty liver disease and liver cancer. Ongoing research emphasises GNMT’s protective role against liver toxicity and its potential as a marker for assessing liver health.

HACD4 (Hydroxyacyl-CoA Dehydratase 4): HACD4 is an enzyme involved in the biosynthesis of very long-chain fatty acids (VLCFAs). These fatty acids are essential for maintaining cellular functions such as membrane structure and energy storage. HACD4 plays a key role in lipid metabolism and has been linked to skin development and function.

HDHD2 (Haloacid Dehalogenase-Like Hydrolase Domain Containing 2): HDHD2 is a gene that encodes an enzyme belonging to the haloacid dehalogenase-like hydrolase family. Although its precise biological functions are not fully established, HDHD2 is thought to be involved in cellular metabolic processes and signalling pathways.

HIVEP2 (Human Immunodeficiency Virus Type I Enhancer Binding Protein 2): HIVEP2 is a gene involved in transcriptional regulation. It encodes a protein that binds to DNA and modulates gene expression. HIVEP2 may play a key role in regulating specific genes, with potential effects on development and immune system function.

HNF4G (Hepatocyte Nuclear Factor 4 Gamma): HNF4G is a transcription factor that plays a crucial role in liver development and function. It regulates genes involved in glucose and lipid metabolism and contributes to the development of the pancreas and kidneys. Dysregulation of HNF4G can impact metabolic processes and has been associated with diabetes and liver diseases.

IL33 (Interleukin 33): IL33 is a cytokine belonging to the IL-1 family, acting as an alarm signal when released by cells under stress or injury. It binds to the ST2 receptor, initiating inflammatory responses, and plays a crucial role in conditions such as allergies, asthma, and other inflammatory diseases. Research on IL33 investigates its dual function in promoting inflammation and offering protection, with potential implications for therapies targeting chronic inflammation and immune dysregulation.

IREB2 (Iron Responsive Element Binding Protein 2): IREB2 is a gene that plays a key role in iron metabolism by regulating genes involved in iron storage and transport. It helps maintain iron balance in the body by binding to iron-responsive elements (IREs) in the mRNA of these genes, controlling their stability and translation. Proper function of IREB2 is essential to prevent iron-related health issues such as anaemia or iron overload disorders including haemochromatosis. Studying IREB2 is important for understanding iron metabolism and its links to conditions such as neurodegenerative diseases.

ISL1 (ISL LIM Homeobox 1): ISL1 is a transcription factor that regulates the development and differentiation of key tissues, including the heart, motor neurones, and sensory neurones. It plays an essential role in guiding these cells during embryonic growth and maintaining their function in adults. Mutations in ISL1 are linked to congenital heart defects and other developmental disorders.

KCNK9 (Potassium Two Pore Domain Channel Subfamily K Member 9): KCNK9 encodes a two-pore-domain potassium channel, which belongs to the potassium channel family. These channels help regulate the resting membrane potential and control neuronal excitability. Mutations in KCNK9 are associated with Birk-Barel mental retardation dysmorphism syndrome, highlighting its crucial role in neural development and function.

KCTD9 (Potassium Channel Tetramerisation Domain Containing 9) is a gene that encodes a protein involved in protein-protein interactions and the formation of protein complexes. It may contribute to the regulation of ion channels or other cellular processes through its role in complex assembly and signalling pathways.

LAMA5 (Laminin Subunit Alpha 5): LAMA5 is a gene that encodes a protein belonging to the laminin family, which is essential for the structure and function of basement membranes in various tissues. Laminins contribute to cell adhesion, differentiation, migration, and signalling. LAMA5 plays an important role in vascular and neural development and has been linked to pathological conditions such as cancer metastasis and fibrosis, where basement membrane integrity is compromised.

MAGI3 (Membrane Associated Guanylate Kinase, WW, and PDZ Domain Containing 3): MAGI3 is a scaffolding protein that plays a key role in the assembly of multiprotein complexes at cell junctions and in signal transduction pathways. It is involved in cellular processes such as epithelial cell polarity and may contribute to cancer development, particularly through its roles in cell-cell adhesion and signalling.

MOXD1 (Monooxygenase DBH-Like 1): MOXD1 is a gene involved in oxidative reactions within cells. While its precise functions and implications for human health are still being studied, MOXD1 is believed to play a role in the metabolism of certain compounds.

RPL39 (Mitochondrial Ribosomal Protein L39): MRPL39 is a gene that encodes a protein component of the mitochondrial ribosome, essential for mitochondrial protein synthesis. This process supports the production of mitochondrial respiratory chain components, which are critical for cellular energy generation. MRPL39 plays a key role in mitochondrial function, and its dysfunction may contribute to disorders affecting energy metabolism, including neurodegenerative, muscular, and metabolic diseases.

MTDH (Metadherin), also known as AEG-1, is a multifunctional protein involved in key cellular processes such as cell adhesion, migration, and cancer development. It plays a significant role in tumour growth, angiogenesis, and metastasis, acting as an oncogene. Due to its involvement in promoting chemoresistance and its link to poor clinical outcomes, MTDH is considered an important target for cancer therapy.

NOX4 (NADPH oxidase 4) is an enzyme from the NADPH oxidase family that produces reactive oxygen species (ROS) within cells. Unlike other members of the family, NOX4 is continuously active under normal conditions. It is primarily located in the endoplasmic reticulum and plasma membrane, where it transfers electrons from NADPH to oxygen, generating superoxide radicals. The ROS produced by NOX4 function as signalling molecules involved in cell growth, differentiation, and programmed cell death, among other physiological processes.

NRP2 (Neuropilin 2): NRP2 is a receptor that plays a key role in angiogenesis and lymphangiogenesis, as well as in neuronal guidance. It interacts with vascular endothelial growth factors and semaphorins, influencing the development of blood vessels and nerves. NRP2 is also involved in cancer progression, particularly in tumour angiogenesis and metastasis, and has important roles in developmental processes.

NSG1 (Neuronal Vesicle Trafficking-Associated 1): NSG1 is a gene involved in neuronal vesicle trafficking and synapse formation. It plays a key role in regulating neurotransmitter release and synaptic transmission. Understanding NSG1 is important for exploring the mechanisms behind neuronal communication and synaptic plasticity, which are essential for brain function.

NSUN3 (NOP2/Sun RNA Methyltransferase Family Member 3) is a gene that encodes an RNA methyltransferase involved in modifying mitochondrial tRNAs. This modification is important for proper mitochondrial protein synthesis and function. Mutations in NSUN3 have been associated with mitochondrial diseases.

ORC5 (Origin Recognition Complex Subunit 5): ORC5 is a protein that forms part of the origin recognition complex, a crucial component in the initiation of DNA replication in eukaryotic cells. It plays a vital role in ensuring precise DNA replication, which is essential for maintaining genomic integrity. Dysfunction in ORC5 or the replication initiation process can result in genomic instability, a hallmark of cancer cells, and contribute to developmental disorders associated with impaired cell proliferation.

PAPPA (Pregnancy-Associated Plasma Protein A): PAPPA is a protease that regulates the availability of insulin-like growth factors (IGFs) by cleaving their binding proteins. It plays a vital role in foetal development and is used as a biomarker in prenatal screening for aneuploidies. Abnormal levels of PAPPA are linked to adverse pregnancy outcomes, including pre-eclampsia and intrauterine growth restriction.

PKNOX1 (PBX/Knotted 1 Homeobox 1): PKNOX1 is a transcription factor involved in regulating gene expression during development and cellular differentiation. It plays a role in embryogenesis and may influence the development of haematopoietic cells. Dysregulation of PKNOX1 can contribute to developmental abnormalities.

PPM1F (Protein Phosphatase, Mg2+/Mn2+ Dependent 1F): PPM1F is a gene that encodes a protein phosphatase involved in the dephosphorylation of target proteins. This process is essential for regulating cellular functions such as signal transduction and cell cycle progression. PPM1F likely plays a role in fine-tuning these critical cellular activities.

PRLR (Prolactin Receptor): PRLR is a receptor that binds to the hormone prolactin, which plays a role in milk production, reproductive functions, and immune regulation. When prolactin binds, PRLR activates signalling pathways that control cell growth, development, and differentiation. Dysregulation of PRLR signalling has been associated with breast and other cancers, highlighting its role in cellular proliferation and its potential as a therapeutic target.

PRSS1 (Protease, Serine 1): PRSS1 is a gene that encodes trypsin, a digestive enzyme produced in the pancreas. Trypsin plays a crucial role in digestion by breaking down proteins. Mutations in PRSS1 can cause hereditary pancreatitis, a condition characterised by repeated episodes of pancreatic inflammation. Understanding PRSS1 is important for gaining insights into pancreatic function and managing pancreatic disorders.

PTER (Phosphotriesterase-related protein): PTER is a protein that plays a crucial role in cellular detoxification and regulation of metabolism. As a member of the phosphotriesterase-related protein family, PTER is involved in the breakdown of chemical compounds, including organophosphate pesticides and nerve agents. Its enzymatic activity helps protect cells from chemical damage, and it is also involved in cellular signalling and metabolic processes. Dysregulation of PTER expression or activity can increase susceptibility to chemical toxicity and metabolic disorders.

RASEF (RAS And EF-Hand Domain Containing): RASEF is a gene that encodes a protein containing both RAS and EF-hand domains, suggesting a role in signal transduction and calcium binding. Although its precise functions are still under investigation, RASEF may be involved in cellular processes such as cell growth and differentiation.

RMI2 (RecQ Mediated Genome Instability 2): RMI2 is a protein that plays a vital role as part of a complex involved in maintaining genomic stability. It is essential for repairing DNA double-strand breaks and resolving DNA recombination structures. Proper function of RMI2 helps prevent genomic instability, which is a critical factor in cancer development and progression.

SEPHS1 (Selenophosphate Synthetase 1) SEPHS1 is a gene that encodes an enzyme essential for the biosynthesis of selenoproteins, which contain the amino acid selenocysteine. Predominantly located in the cytoplasm, SEPHS1 plays a key role in selenium metabolism by producing selenophosphate, the activated form of selenium required for selenocysteine incorporation into proteins. Through this activity, SEPHS1 supports the proper synthesis of selenoproteins, which are important for various cellular processes and overall cellular health.

SIRT1 (Sirtuin 1): SIRT1 is a protein belonging to the sirtuin family, which regulates essential cellular processes through protein deacetylation. SIRT1 plays a particularly important role in promoting longevity and managing the ageing process. It influences gene expression, supports DNA repair, and helps cells respond to stress, making it a crucial factor in ageing and age-related health conditions.

SLC16A9 (Solute Carrier Family 16 Member 9) is a gene that encodes a protein belonging to the solute carrier family, which facilitates the transport of small molecules across cell membranes. Although its precise substrates and functions are still under investigation, SLC16A9 plays a role in cellular transport processes.

SLC17A1 (Solute Carrier Family 17 Member 1): SLC17A1 encodes a vesicular glutamate transporter responsible for packaging and releasing glutamate, a key neurotransmitter, into synaptic vesicles. This protein plays a crucial role in neuronal communication and synaptic transmission.

SLC24A4 (Solute Carrier Family 24 Member 4) is a gene involved in the transport of calcium and sodium ions, playing a key role in dental enamel formation and pigmentation processes. Variants in SLC24A4 are linked to amelogenesis imperfecta, a condition that affects tooth enamel, and may also contribute to pigmentation-related disorders.

SLC44A2 (Solute Carrier Family 44 Member 2): SLC44A2 is a gene involved in choline transport and plays a role in modulating immune responses and inflammation. It has been linked to the risk of venous thromboembolism and contributes to neutrophil migration and activation. Research into SLC44A2 helps clarify its impact on thrombotic disorders and immune regulation, highlighting potential targets for treating inflammatory and thrombotic diseases.

SLC45A1 (Solute Carrier Family 45 Member 1): SLC45A1 is a transporter protein that facilitates the movement of sugars and other molecules across cellular membranes. It contributes to metabolic processes, and its dysfunction can disrupt cellular energy balance and overall metabolism.

SLC7A11 (Solute Carrier Family 7 Member 11): SLC7A11 is a key component of the xCT transporter system, responsible for exchanging extracellular cystine with intracellular glutamate. This exchange is essential for maintaining intracellular glutathione levels, which protect cells against oxidative stress. Overexpression of SLC7A11 has been associated with enhanced survival of cancer cells under oxidative conditions, making it a significant focus in cancer therapy research.

SORCS1 (Sortilin-Related VPS10 Domain Containing Receptor 1): SORCS1 is a gene that encodes a receptor involved in protein trafficking and sorting within cells. This receptor plays an important role in regulating receptor signalling and is linked to neural development and synaptic function.

SRBD1 (S1 RNA Binding Domain 1) is a gene that encodes an RNA-binding protein involved in post-transcriptional regulation. Such proteins are important for processes like mRNA splicing, transport, and stability. While the precise role of SRBD1 is still being investigated, it may contribute to the regulation of gene expression at the RNA level.

SYCP2L (Synaptonemal Complex Protein 2-Like): SYCP2L is a protein involved in meiosis, playing a key role in the formation of the synaptonemal complex. This structure is essential for the pairing and recombination of homologous chromosomes. SYCP2L is important for understanding the mechanisms of genetic recombination and fertility, with potential implications in reproductive biology and related disorders.

TNFRSF13B (Tumour Necrosis Factor Receptor Superfamily Member 13B): TNFRSF13B, also known as TACI, is a receptor for the cytokines BAFF and APRIL. Both play key roles in B cell development and function. Mutations in TNFRSF13B have been linked to common variable immunodeficiency (CVID) and selective IgA deficiency, highlighting its importance in humoral immunity. Research on TNFRSF13B focuses on understanding its role in immune dysregulation and autoimmune diseases.

UGT1A6 (UDP Glucuronosyltransferase Family 1 Member A6): is a gene that encodes an enzyme from the UDP glucuronosyltransferase family. This enzyme plays a crucial role in phase II metabolism by enabling the conjugation of drugs, toxins, and endogenous substances with glucuronic acid, aiding their elimination from the body. UGT1A6 is vital for detoxification and maintaining overall metabolic balance.

XKR9 (X-Kell Blood Group Precursor-Related Family Member 9) is a gene that belongs to the X-Kell blood group precursor-related family. Although its exact functions are not yet fully understood, current research is examining its potential roles in cell membrane dynamics and physiological processes.

XXYLT1 (Xyloside Xylosyltransferase 1) is a gene that encodes an enzyme responsible for modifying proteins by adding xylose sugars to proteoglycans. This modification is essential for constructing glycosaminoglycan chains, which support cell signalling, adhesion, and movement within the extracellular matrix. Alterations in XXYLT1 can impact these processes and have been associated with developmental disorders.

ZCCHC7 (Zinc Finger CCHC-Type Containing 7): ZCCHC7 is a member of the zinc finger protein family, known for their roles in DNA binding and gene regulation. Although its precise function is not yet fully understood, ZCCHC7 is thought to be involved in processes such as transcriptional regulation, RNA processing, and DNA repair, affecting various cellular activities and potentially contributing to disease mechanisms.

ZMYM6 (Zinc Finger MYM-Type Containing 6) is a gene that encodes a zinc finger protein potentially involved in transcriptional regulation and chromatin remodelling. It may contribute to controlling gene expression and has been studied in connection with blood cancers. While its precise role in both normal and disease states remains under investigation, ZMYM6 is considered significant in genomic regulation processes.

ZNF365 (Zinc Finger Protein 365): ZNF365 is a protein that belongs to the zinc finger family, known for its role in binding DNA and regulating gene expression. It is involved in the DNA damage response and repair, helping to maintain genomic stability. Variants in ZNF365 have been linked to an increased risk of diseases such as breast cancer and Crohn’s disease, emphasising its importance in cellular defence and disease susceptibility.

ZNF816 (Zinc Finger Protein 816) is a gene that encodes a member of the zinc finger protein family, known for its roles in DNA binding and gene regulation. Although the specific function of ZNF816 has not been fully established, zinc finger proteins are key regulators of gene expression, influencing development, cell differentiation, and potential disease pathways such as cancer and genetic disorders.