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The DNA Methylation Test from GetTested provides a comprehensive analysis of your body’s methylation capabilities by exploring key genes such as MTHFR, COMT, BHMT, and several others. By analyzing these genes, the test offers insights into how your body manages crucial biological processes like gene expression, DNA repair, and detoxification. Methylation plays a vital role in many of the body’s functions and can influence everything from energy production to mental well-being. This test is ideal for those seeking a deeper understanding of their health at a molecular level and wishing to tailor their diet, lifestyle, and potential supplements based on personal genetic predispositions.

<p>The DNA Methylation Test from GetTested provides a comprehensive analysis of your body’s methylation capabilities by exploring key genes such as MTHFR, COMT, BHMT, and several others. By analyzing these genes, the test offers insights into how your body manages crucial biological processes like gene expression, DNA repair, and detoxification. Methylation plays a vital role in many of the body’s functions and can influence everything from energy production to mental well-being. This test is ideal for those seeking a deeper understanding of their health at a molecular level and wishing to tailor their diet, lifestyle, and potential supplements based on personal genetic predispositions.</p>

DNA Methylation Test

GDPD5 (Glycerophosphodiester Phosphodiesterase Domain Containing 5) is a gene involved in lipid metabolism, particularly in breaking down glycerophosphodiesters into glycerol phosphate and alcohol. This activity supports membrane component turnover and regulates intracellular signalling. GDPD5 plays a role in lipid signalling pathways, with potential implications for metabolic and cardiovascular health.

GDPD5

SPG7 (Spastic Paraplegia 7, Paraplegin): SPG7 is a mitochondrial protein involved in the maintenance and function of mitochondria, particularly in ATPase assembly. It plays a crucial role in neural and mitochondrial health. Mutations in SPG7 are a common cause of hereditary spastic paraplegia, a neurodegenerative disorder characterised by progressive stiffness and weakness in the lower limbs.

SPG7

FOXK1 (Forkhead Box K1) is a transcription factor that belongs to the forkhead box (FOX) family, distinguished by a unique DNA-binding domain known as the forkhead box. FOXK1 plays a vital role in regulating gene expression related to cell growth, proliferation, differentiation, and longevity. It is particularly significant in muscle development and regeneration, as well as in managing metabolic functions. Because of its involvement in these crucial processes, FOXK1 is also researched for its role in various diseases, including cancer.

FOXK1

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.

GRM5 (Metabotropic Glutamate Receptor 5): GRM5 is a member of the metabotropic glutamate receptor family and plays a key role in neuronal signalling. It is involved in modulating synaptic transmission and plasticity. Dysregulation of GRM5 has been linked to neurological disorders such as schizophrenia.

GRM5

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

DIPK2A (Divergent Protein Kinase Domain 2A) is a gene believed to be involved in kinase activity, potentially playing a role in cellular signalling pathways. Although not extensively studied, it may affect how cells communicate and regulate various biological processes.

DIPK2A

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

ULK3

SLC25A34 (Solute Carrier Family 25 Member 34): SLC25A34 belongs to the solute carrier family, which is responsible for transporting various molecules across cellular membranes. Although the precise function of SLC25A34 is not yet fully understood, members of this family play crucial roles in metabolic processes and in maintaining cellular homeostasis. Research into this gene could provide valuable insights into metabolic disorders and cellular transport mechanisms.

SLC25A34

CTBP2 (C-Terminal Binding Protein 2) is a gene that encodes a transcriptional co-repressor involved in regulating gene expression. It plays a key role in developmental processes and may influence cancer-related pathways by modulating the activity of tumour suppressor genes and oncogenes.

CTBP2

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.

ARHGAP21

GAREM2 (GRB2 Associated Regulator of MAPK1 Subtype 2) is a gene involved in regulating the MAPK/ERK signalling pathway, which is essential for controlling cell growth, differentiation, and survival. It helps mediate cellular responses to external signals such as growth factors and stress. GAREM2 is of particular interest in cancer research, as disruptions in this pathway are commonly linked to tumour development.

GAREM2

TSHZ3 (Teashirt Zinc Finger Homeobox 3): TSHZ3 is a transcription factor that plays a crucial role in embryonic development and tissue differentiation. It is involved in the formation and development of various organs and tissues. Mutations in TSHZ3 can lead to developmental abnormalities.

TSHZ3

BCL2L1 (BCL2 Like 1) is a protein that belongs to the Bcl-2 family and plays a key role in regulating apoptosis, or programmed cell death. By preventing the release of factors that trigger cell death from mitochondria, BCL2L1 supports cell survival and helps maintain cellular health during stress. It is found in many tissues and is involved in disease processes, including cancer, where its overexpression allows cancer cells to resist apoptosis. This resistance is often linked to chemotherapy failure and poorer outcomes in cancer patients.

BCL2L1

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.

WSB1

DOCK9 (Dedicator of Cytokinesis 9) is a gene that encodes a guanine nucleotide exchange factor (GEF) protein. GEFs are important regulators that activate Rho family GTPases, which control key cellular processes such as cytoskeletal organisation, cell shape, and migration. DOCK9 plays a critical role in influencing cell morphology, adhesion, and movement, making it significant in developmental biology and cancer progression.

DOCK9

VLDLR (Very Low Density Lipoprotein Receptor): VLDLR is a protein involved in lipid metabolism, responsible for mediating the uptake of triglyceride-rich lipoproteins into cells for energy use or storage. It also plays a vital role in neuronal migration and cerebellar development. Mutations in VLDLR can lead to dysequilibrium syndrome, a rare genetic disorder characterised by cerebellar hypoplasia and cognitive impairment, highlighting its importance in both lipid processing and brain development.

VLDLR

HAPLN1 (Hyaluronan And Proteoglycan Link Protein 1): HAPLN1 is a protein involved in the binding of hyaluronic acid and proteoglycans in the extracellular matrix. It plays an important role in maintaining tissue integrity and is associated with the function of cartilage and connective tissue.

HAPLN1

DMBX1 (Diencephalon/Mesencephalon Homeobox 1) is a homeobox gene that plays a crucial role in early brain development, particularly in the diencephalon and mesencephalon regions. It is vital for the formation and differentiation of various brain structures. Alterations in DMBX1 expression or function may be associated with developmental brain disorders.

DMBX1

BTG1 (B-cell Translocation Gene 1): BTG1 is a gene with various roles within the cell, primarily involved in regulating the cell cycle and cellular differentiation. It functions as a tumour suppressor gene in specific contexts, helping to control cell growth and proliferation. In addition to its tumour-suppressive roles, BTG1 is also implicated in several other cellular processes, making it a significant focus in cancer research and developmental biology.

BTG1

ELAVL2 (ELAV Like RNA Binding Protein 2): ELAVL2 is an RNA-binding protein involved in the post-transcriptional regulation of gene expression. As a member of the ELAVL family, it plays a crucial role in mRNA stabilization and translation. ELAVL2 has been associated with neurodevelopmental disorders and various neurological conditions.

ELAVL2

SGMS1 (Sphingomyelin Synthase 1): SGMS1 is an enzyme involved in sphingolipid metabolism, which is essential for maintaining cell membrane integrity and signalling. It plays a key role in converting ceramide to sphingomyelin, a process important for cell signalling and apoptosis. Dysregulation of SGMS1 is associated with metabolic and neurodegenerative diseases.

SGMS1

DCDC2C (Doublecortin Domain-Containing Protein 2C) is a gene that encodes a protein from the doublecortin (DCX) family, recognised for its role in brain development. It is involved in processes such as neuronal migration and axon guidance. While the specific function of DCDC2C is still under investigation, it may be associated with neurodevelopmental processes and disorders.

DCDC2C

SLC30A9 (Solute Carrier Family 30 Member 9): SLC30A9 is a zinc transporter that helps maintain zinc levels within cells. Zinc is essential for numerous biological processes, including cell growth, immune response, and neuronal development. Disruption of SLC30A9 function can affect zinc homeostasis, potentially impacting cellular health and overall physiological function.

SLC30A9

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.

DUSP15

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.

ANKH

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.

POLR1F

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.

AMN1

SERPINB1 (Serpin Family B Member 1): SERPINB1 is a protein that belongs to the serpin (serine protease inhibitor) family. It plays a key role in regulating proteolytic pathways involved in inflammation and immune responses. SERPINB1 primarily inhibits neutrophil elastase and cathepsin G, enzymes released by neutrophils during inflammation, helping to prevent excessive tissue damage. Its protective function in maintaining lung tissue integrity is especially important in conditions such as cystic fibrosis and chronic obstructive pulmonary disease (COPD), where reduced or impaired SERPINB1 activity can contribute to increased tissue degradation and disease progression.

SERPINB1

C10ORF53 (Chromosome 10 Open Reading Frame 53): C10ORF53 is a gene identified by its position on chromosome 10. Although its precise function is still unknown, C10ORF53 represents a potential focus for genetic research. Investigating this gene could help reveal new biological pathways and disease connections, providing insights into cellular processes associated with this region of the genome.

C10ORF53

EXOC1L (Exocyst Complex Component 1 Like): EXOC1L is a lesser-known component of the exocyst complex, a cellular system responsible for vesicle trafficking and exocytosis. It may play a role in the precise delivery of vesicles to the plasma membrane, affecting cell signalling, membrane growth, and secretion.

EXOC1L

H3C6 is a gene believed to be involved in chromatin structure and function, which is essential for DNA packaging and gene regulation. Although its role is not yet fully understood, research aims to reveal how H3C6 may affect gene activity, cellular function, and disease mechanisms.

H3C6

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.

ABT1

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.

MYOM1

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.

HMGA2

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.

MTHFR

CST7 (Cystatin F) is a gene that encodes a protein inhibitor of cysteine proteases, crucial enzymes involved in protein degradation. This protein aids in regulating immune function by controlling protease activity in immune cells such as lymphocytes and macrophages, playing a vital role in maintaining balanced immune responses.

CST7

ZNF799 (Zinc Finger Protein 799): ZNF799 is a member of the zinc finger protein family, recognised for their role in DNA binding and transcriptional regulation. While the specific functions of ZNF799 are not fully understood, its zinc finger motifs suggest it may be involved in regulating gene expression, potentially influencing various cellular processes and playing a role in development or disease.

ZNF799

DACT1 (Dishevelled-Binding Antagonist of Beta-Catenin 1) is a protein involved in the Wnt signalling pathway, which is essential for regulating embryonic development, cell growth, and differentiation. By modulating Wnt signalling, DACT1 helps control key processes in tissue development and maintenance. Changes in DACT1 activity have been linked to various cancers, highlighting its importance in cell proliferation and making it a focus of cancer research.

DACT1

ZBED3 (Zinc Finger BED-Type Containing 3): ZBED3 is a gene that encodes a zinc finger protein, a type of protein domain involved in regulating gene expression. While the specific functions of ZBED3 are still being investigated, zinc finger proteins typically bind to DNA and influence gene activity. ZBED3 may play a role in modulating gene expression, contributing to various cellular processes and pathways.

ZBED3

LYST (Lysosomal Trafficking Regulator): LYST is a gene that regulates lysosomal trafficking, essential for proper cellular digestion and waste removal. Mutations in LYST can lead to Chediak-Higashi syndrome, a rare disorder characterised by abnormal lysosome formation, impaired immune function, and increased infection risk.

LYST

HLA-DQB1 (Human Leucocyte Antigen DQ Beta 1): HLA-DQB1 is a gene that encodes part of the MHC class II molecule, essential for presenting foreign peptide antigens to CD4+ T helper cells. It plays a key role in initiating immune responses and maintaining self-tolerance. Variations in HLA-DQB1 have been linked to autoimmune diseases such as type 1 diabetes and coeliac disease.

HLA-DQB1

HERC2 (HECT and RLD Domain Containing E3 Ubiquitin Protein Ligase 2): HERC2 is an E3 ubiquitin-protein ligase that plays a crucial role in the ubiquitin–proteasome system, which governs protein degradation. It is involved in various cellular processes, including DNA repair and pigment production, particularly influencing eye colour. Variations in HERC2 are associated with neurodevelopmental disorders and pigmentary abnormalities.

HERC2

ERG (ETS Transcription Factor ERG) is a gene that encodes a member of the ETS family of transcription factors, which are involved in regulating gene expression. ERG plays an important role in blood vessel formation, blood cell development, and bone growth. Alterations in ERG have been linked to several cancers, including prostate cancer and Ewing sarcoma.

EPHA5 (EPH Receptor A5): EPHA5 is a member of the ephrin receptor subfamily of protein tyrosine kinases, which play a crucial role in developmental processes, particularly within the nervous system. It interacts with specific ligands to regulate neuronal migration and axon guidance. Disruption of EPHA5 signalling has been associated with neurodevelopmental disorders and certain cancers, making it a focus of research into neural development and a potential target for therapies in neurological diseases and oncology.

EPHA5

SPATA6 (Spermatogenesis Associated 6): SPATA6 is a gene important in spermatogenesis — the process of sperm cell development. It plays a key role in the formation and function of spermatozoa. Mutations in SPATA6 can cause male infertility, making it a significant factor in reproductive health.

SPATA6

APOA1 (Apolipoprotein A-I) is a gene that encodes the primary protein component of high-density lipoprotein (HDL) in the blood. It plays a crucial role in cholesterol transport by aiding the removal of excess cholesterol from tissues and delivering it to the liver for elimination. Variations in APOA1 can influence HDL levels and affect the risk of cardiovascular disease.

APOA1

H2BC5 (Histone Cluster 2, H2bc5): H2BC5 is a protein that belongs to the histone H2B family. These proteins play a crucial role in packaging and organising DNA within the nucleus of eukaryotic cells. H2BC5 assists in forming nucleosomes, the fundamental repeating units of chromatin, where DNA is wrapped around a core of histone proteins. Through various modifications, H2BC5 and other histones regulate gene expression, DNA replication, and repair, contributing to the dynamic structure and function of chromosomes.

H2BC5

CNDP2 (Carnosine Dipeptidase 2): CNDP2 is an enzyme closely related to CNDP1 that is involved in the metabolism of carnosine and anserine. Although its function and significance are less well understood than those of CNDP1, CNDP2 is thought to play a role in muscle and brain health. Ongoing research into CNDP2 may provide new insights into metabolic health and disease.

CNDP2

LAMA4 (Laminin Subunit Alpha 4): LAMA4 is a member of the laminin family, essential for cell adhesion and maintaining the integrity of the extracellular matrix. It plays important roles in tissue organisation, angiogenesis, and is involved in various pathological conditions, including cancer and vascular diseases.

LAMA4

LINGO2 (Leucine-Rich Repeat And Ig Domain-Containing 2): LINGO2 is a gene involved in neuronal development and function. It is believed to play a role in axon growth and myelination. Dysregulation of LINGO2 has been linked to neurological disorders such as Parkinson’s disease and essential tremor.

LINGO2

CALCRL (Calcitonin Receptor-Like): CALCRL is a receptor that forms a key component of the calcitonin gene-related peptide (CGRP) receptor complex. It plays a vital role in cardiovascular function by regulating vasodilation and helping to maintain blood pressure equilibrium.

CALCRL

OSR1 (Odd-Skipped Related 1): OSR1 is a transcription factor gene that plays a key role in embryonic development, particularly in the formation of the heart and urogenital system. Proper regulation of OSR1 is essential, as mutations or dysregulation can lead to developmental abnormalities. Research on OSR1 is important for understanding congenital defects and developmental biology.

OSR1

FBLN5 (Fibulin 5): FBLN5 is a protein involved in the assembly of elastic fibres and the organisation of connective tissue. It plays a vital role in maintaining the integrity and elasticity of the extracellular matrix, which is essential for proper skin, vascular, and lung function. Dysregulation of FBLN5 is linked to tissue stiffness, age-related macular degeneration, and organ fibrosis, underscoring its importance in tissue remodelling and disease.

FBLN5

LTBR (Lymphotoxin B Receptor): LTBR is a protein essential for the development and organisation of lymphoid tissues. It plays a key role in immune responses, particularly in the formation of lymph nodes and secondary lymphoid organs. Abnormalities in LTBR function are associated with autoimmune diseases and immune system disorders, making it a significant focus in immunological research.

LTBR

APOBEC1 (Apolipoprotein B mRNA Editing Enzyme, Catalytic Polypeptide 1) is an RNA-editing enzyme that modifies apolipoprotein B (apoB) mRNA, producing a shorter form of the protein in the intestine. This editing process is essential for lipid metabolism and the formation of lipoproteins. Dysregulation of APOBEC1 may affect cholesterol balance and is associated with studies on cardiovascular and lipid-related disorders.

APOBEC1

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.

HTR5A

FGD4 (FYVE, RhoGEF, and PH Domain Containing 4): FGD4 is a gene that encodes a guanine nucleotide exchange factor responsible for specifically activating Cdc42, a member of the Rho family of GTPases. This activation is essential for regulating cytoskeletal organisation, cell shape, and migration. Mutations in FGD4 are linked to Charcot-Marie-Tooth disease, a disorder affecting peripheral nerves, underscoring its critical role in nerve development and function.

FGD4

CYBA (Cytochrome B-245 Alpha Chain) is a gene that encodes a key component of the NADPH oxidase complex, which enables immune cells—particularly phagocytes—to produce reactive oxygen species (ROS). These ROS are essential for killing invading pathogens. Mutations in CYBA can impair this defence mechanism, leading to chronic granulomatous disease, a condition marked by recurrent infections.

CYBA

SLC23A1 (Solute Carrier Family 23 Member 1): SLC23A1 is a protein that plays a vital role in transporting ascorbic acid (vitamin C) into cells. It is essential for maintaining optimal vitamin C levels, which support immune function, collagen production, and antioxidant defence. Genetic variations in SLC23A1 can affect individual vitamin C requirements and influence susceptibility to conditions related to vitamin C deficiency.

SLC23A1

L3MBTL1 (Lethal(3) Malignant Brain Tumour-Like 1): L3MBTL1 is a protein involved in chromatin organisation and regulation of gene expression. It plays a role in repressing target genes and is of particular interest in cancer research due to its potential function in tumour suppression.

L3MBTL1

C1D (Nuclear Nucleic Acid-Binding Protein C1D) is a gene that encodes a nuclear protein involved in binding nucleic acids and assembling ribonucleoprotein complexes. It plays a role in RNA processing and regulation of transcription. C1D is also associated with DNA repair and may have significant implications in cancer biology.

ATP9A (ATPase Phospholipid Transporting 9A) is a protein involved in the transport of phospholipids across cellular membranes. It plays a crucial role in membrane trafficking and maintaining phospholipid balance, which is essential for cell growth, division, and differentiation. Dysregulation of ATP9A has been associated with neurological disorders, highlighting its importance in preserving proper membrane composition and cellular function.

ATP9A

GZMB (Granzyme B): GZMB is a serine protease produced by cytotoxic T lymphocytes and natural killer (NK) cells. It plays a vital role in the immune response by inducing apoptosis in virally infected or tumour cells through the cleavage of specific intracellular substrates. Proper function of GZMB is essential for effective immune surveillance, and its dysregulation can lead to a weakened defence against infections and cancer, emphasising its importance in immune protection and cellular balance.

GZMB

MPPED1 (Metallophosphoesterase Domain Containing 1): MPPED1 is a protein thought to be part of the metallophosphoesterase family, implying a role in phosphatase activity and the regulation of metal ions. Its expression in the brain suggests a possible function in neural development and cerebral activity. Researching MPPED1 could provide valuable insights into neurological processes and disorders, particularly those linked to metal ion balance and phosphatase functions.

MPPED1

ASB3 (Ankyrin Repeat and SOCS Box Protein 3) is a gene that encodes a protein containing ankyrin repeats and a SOCS box domain, both of which are involved in cellular protein regulation. ASB3 plays a role in targeting specific proteins for ubiquitination and degradation, contributing to the control of protein turnover and cellular signalling pathways.

ASB3

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.

NSUN3

SOX5 (SRY-Related HMG-Box Gene 5): SOX5 is a member of the SOX family of transcription factors that play a key role in regulating embryonic development and determining cell fate. SOX5 is involved in several biological processes, including chondrogenesis, nervous system development, and the differentiation of various cell types. It functions by binding to DNA and controlling the expression of genes essential for cell growth, development, and specialisation. Mutations or dysregulation of SOX5 have been linked to a range of developmental disorders and other pathological conditions.

SOX5

ZFAT (Zinc Finger And AT-Hook Domain Containing): ZFAT is a transcription factor involved in regulating gene expression. It is believed to play important roles in immune function and cell survival. ZFAT has been linked to autoimmune diseases and is studied for its role in lymphocyte development and activity.

ZFAT

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.

AZIN2

CSMD1 (CUB and Sushi Multiple Domains 1): CSMD1 is a gene involved in brain development and neural function. It is thought to contribute to immune system regulation and synaptic plasticity. Variations in CSMD1 have been associated with neuropsychiatric conditions, including schizophrenia and cognitive abilities.

CSMD1

GATA2 (GATA Binding Protein 2) is a transcription factor that plays a crucial role in regulating genes involved in blood cell formation (haematopoiesis) and endothelial cell function. It is essential for the development and maintenance of haematopoietic stem cells and the immune system. Mutations in GATA2 are associated with several blood disorders, including GATA2 deficiency, which can cause immunodeficiency, myelodysplastic syndrome, and acute myeloid leukaemia.

GATA2

GRIA1: GRIA1 is a gene that encodes a key subunit of AMPA receptors, which are essential for rapid synaptic transmission in the brain. These receptors respond to glutamate, the primary excitatory neurotransmitter in the nervous system. The GRIA1 subunit plays a crucial role in synaptic plasticity, which underpins learning and memory. Alterations or mutations in GRIA1 have been associated with neurological disorders such as epilepsy and neurodegenerative diseases, making it an important focus in neuroscience research.

GRIA1

CXCR4 (C-X-C Motif Chemokine Receptor 4) is a gene that encodes a receptor involved in immune system regulation and cell movement. This receptor binds to its ligand, CXCL12, playing a key role in directing the migration and trafficking of immune cells. CXCR4 is essential for proper immune function and is linked to several diseases, including cancer and HIV infection.

CXCR4

GPR26 (G Protein-Coupled Receptor 26) is an orphan receptor with an unclear ligand and physiological function. It is thought to play a role in central nervous system activity, potentially affecting mood and behaviour. Research suggests that GPR26 may be associated with neurological and psychiatric disorders, making it a subject of interest in neuroscience and drug development.

GPR26

FMO2 (Flavin Containing Monooxygenase 2): FMO2 is an enzyme that plays a crucial role in the metabolism of xenobiotics, drugs, and other foreign compounds. Utilising flavin adenine dinucleotide (FAD) as a cofactor, it aids in the detoxification of nitrogen-containing substances. FMO2 is predominantly expressed in the lungs, and genetic variants can influence its activity, affecting individual responses to certain medications and environmental toxins.

FMO2

FCHSD2 (FCH And Double SH3 Domains 2): FCHSD2 is a protein involved in key cellular processes such as endocytosis and cytoskeletal organisation. It plays an important role in vesicle transport and cell signalling, contributing to membrane dynamics. FCHSD2 has also been associated with certain cancers, making it significant for understanding cellular communication and disease mechanisms.

FCHSD2

CXCR2 (C-X-C Motif Chemokine Receptor 2): CXCR2 is a receptor that binds C-X-C motif chemokines and plays a key role in directing leucocyte migration to sites of inflammation. It is especially important for recruiting neutrophils, which are vital for the body’s initial defence against infection or injury. Dysregulated CXCR2 signalling is linked to chronic inflammatory conditions such as COPD and asthma, and it also contributes to the tumour-promoting inflammatory environment in cancer. As a result, targeting CXCR2 signalling is a promising therapeutic approach for treating inflammatory diseases and limiting cancer progression.

CXCR2

CITED2 (Cbp/p300-Interacting Transactivator With Glu/Asp-Rich Carboxy-Terminal Domain 2): CITED2 is a transcriptional modulator that affects gene expression by interacting with multiple transcription factors. It plays a crucial role in embryonic development, including the formation of the heart and nervous system, and is involved in cellular responses to low oxygen levels (hypoxia). Dysregulation of CITED2 is associated with congenital defects and various developmental disorders.

CITED2

PRSS16 (Serine Protease 16): PRSS16 encodes a serine protease enzyme that plays a key role in protein digestion. This enzyme is essential for breaking down dietary proteins in the stomach and small intestine into smaller peptides and amino acids, which can then be absorbed and utilised by the body.

PRSS16

VAV2 (Vav Guanine Nucleotide Exchange Factor 2): VAV2 is a guanine nucleotide exchange factor (GEF) that transmits signals from tyrosine kinase receptors to Rho GTPases. It plays a crucial role in regulating cell shape, movement, and proliferation through its impact on cytoskeletal dynamics and cell signalling pathways. Dysregulation of VAV2 has been linked to cancer progression, making it a significant focus in studies of tumour development and metastasis.

VAV2

LPA (Lysophosphatidic Acid): LPA is a bioactive lipid that functions as a potent signalling molecule, affecting processes such as cell growth, movement, and survival. It signals by binding to specific G protein-coupled LPA receptors on cell membranes and is produced through the breakdown of phospholipids. Beyond its normal physiological roles, LPA is associated with conditions such as cancer, fibrosis, and cardiovascular disease.

FLNB (Filamin B): FLNB is a gene that encodes a protein essential for cross-linking actin filaments in the cytoskeleton. This protein plays a key role in maintaining the structure and function of cells. Mutations in FLNB lead to a group of skeletal disorders known as filaminopathies, which include conditions such as spondylocarpotarsal synostosis syndrome and Larsen syndrome, characterised by skeletal malformations and joint dislocations.

FLNB

ZIC2 (Zic Family Member 2): ZIC2 is a transcription factor that plays a crucial role in neural development, particularly in the formation of the midbrain and hindbrain. Mutations in ZIC2 are associated with holoprosencephaly, a developmental disorder affecting brain and facial formation.

ZIC2

EFNA5 (Ephrin A5): EFNA5 is a member of the ephrin family that acts as a ligand for Eph receptors. These interactions play crucial roles in developmental processes such as axon guidance, angiogenesis, and tissue patterning. Dysregulation of EFNA5 signalling can result in abnormal development and has been associated with cancer progression.

EFNA5

FUT3 (Fucosyltransferase 3): FUT3 is a gene that encodes an enzyme involved in the synthesis of Lewis blood group antigens. These antigens are found on the surface of red blood cells and mucosal epithelial cells, where they play roles in cell adhesion and signalling.

FUT3

CELF4 (CUGBP, Elav-Like Family Member 4): CELF4 is a gene that encodes an RNA-binding protein belonging to the CUGBP/Elav-like family. Proteins such as CELF4 play important roles in RNA processing and the post-transcriptional regulation of gene expression. The functions of CELF4 likely involve RNA metabolism and regulation, influencing a variety of cellular processes.

CELF4

CNTNAP5 (Contactin-Associated Protein-Like 5) is a gene that encodes a protein belonging to the contactin-associated protein (CASPR) family. These proteins play important roles in neural development by helping form specialised connections between nerve cells. CNTNAP5 is believed to contribute to the organisation of neural circuits and proper synaptic function in the nervous system.

CNTNAP5

FBLL1 (Fibroblast-Like Protein 1): FBLL1 is a gene that encodes a protein involved in regulating interactions within the extracellular matrix (ECM). It plays important roles in tissue regeneration, vascular development, and embryonic growth by influencing ECM structure and composition. Proper FBLL1 function supports tissue maintenance and repair, while its dysregulation has been linked to conditions such as cancer, fibrosis, and inflammatory disorders.

FBLL1

ZDHHC20 (Zinc Finger DHHC-Type Palmitoyltransferase 20): ZDHHC20 is an enzyme belonging to the DHHC family of palmitoyltransferases. These enzymes catalyse protein palmitoylation, a post-translational modification where a fatty acid, palmitate, is attached to specific cysteine residues on target proteins. This modification regulates the proteins’ cellular localisation, stability, and function. ZDHHC20 specifically facilitates the palmitoylation of certain proteins, affecting their membrane association and intracellular trafficking. Through this role, ZDHHC20 influences key cellular processes such as signal transduction, synaptic plasticity, and membrane trafficking. Dysregulation of ZDHHC20 has been linked to various neurological disorders.

ZDHHC20

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

BRAF

EPM2A is a gene that encodes laforin, a phosphatase enzyme involved in glycogen metabolism. Laforin plays a crucial role in preventing the accumulation of abnormal glycogen deposits known as Lafora bodies, which are toxic to neurons. Mutations in EPM2A cause Lafora disease, a rare and fatal form of progressive myoclonic epilepsy. This underscores the critical role of EPM2A in maintaining neuronal health through metabolic regulation.

EPM2A

CPS1 (Carbamoyl-phosphate synthase 1): CPS1 is a key enzyme in the urea cycle that plays a vital role in detoxifying ammonia in the body. It catalyses the formation of carbamoyl phosphate from ammonia and bicarbonate, initiating the process of urea synthesis in the liver. The urea cycle is essential for removing excess nitrogen produced from the breakdown of proteins and amino acids, preventing the toxic accumulation of ammonia in the bloodstream. CPS1 activity is carefully regulated to maintain nitrogen balance and prevent hyperammonaemia, a condition associated with neurological damage and other serious complications.

CPS1

ANO3 (Anoctamin 3) is a gene that encodes a calcium-activated chloride channel involved in smooth muscle function and neurological processes. Mutations in ANO3 are associated with movement disorders such as dystonia, emphasising its role in neuromuscular signalling and muscle control.

ANO3

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.

SLC12A1

SLC25A2 (Solute Carrier Family 25 Member 2): SLC25A2 is a gene that encodes a mitochondrial transport protein involved in the movement of ornithine across the mitochondrial membrane. This transport is essential for the urea cycle and amino acid metabolism. Dysfunction in SLC25A2 can result in metabolic disorders, emphasising its crucial role in metabolic pathways and its potential as a therapeutic target for related diseases.

2SLC25A2

SLC20A2 (Solute Carrier Family 20 Member 2): SLC20A2 is a phosphate transporter that plays a crucial role in maintaining phosphate homeostasis. Mutations in this gene are associated with primary familial brain calcification, a condition characterised by abnormal calcium-phosphate deposits in the brain.

SLC20A2

STAT3 (Signal Transducer and Activator of Transcription 3): STAT3 is a key transcription factor that regulates crucial cellular functions such as cell growth, differentiation, and programmed cell death (apoptosis). It plays a vital role in the immune response and is closely associated with cancer development, where abnormal STAT3 activity is linked to various cancers and other diseases.

STAT3

SIDT1 (SID1 Transmembrane Family, Member 1): SIDT1 is a protein involved in the cellular uptake of double-stranded RNA (dsRNA). It plays a crucial role in RNA interference and antiviral responses, contributing to the body’s defence against viral infections and supporting research into RNA-based therapeutic strategies.

GNMT

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