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The GetTested DNA Metabolic Health Test provides you with an in-depth understanding of your metabolic health by analyzing 240 carefully selected genes. This comprehensive analysis offers insights into your metabolism, blood sugar, weight, thyroid, parathyroid, and much more, along with personalized recommendations based on your genetics.

<p>The GetTested DNA Metabolic Health Test provides you with an in-depth understanding of your metabolic health by analyzing 240 carefully selected genes. This comprehensive analysis offers insights into your metabolism, blood sugar, weight, thyroid, parathyroid, and much more, along with personalized recommendations based on your genetics.</p>

DNA Metabolic Health Test

RBM17 (RNA Binding Motif Protein 17): RBM17 is a protein involved in RNA splicing, a crucial process in gene expression. It plays a significant role in regulating alternative splicing, which influences the variety of proteins that can be produced from a single gene. Alterations in RBM17 may have implications in diseases such as cancer, where disrupted splicing can affect cell growth and survival.

RBM17

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.

rs2129588

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

AKR1E2

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.

TBX3

SOAT2 (Sterol O-Acyltransferase 2): SOAT2 is an enzyme that represents a crucial step in lipid metabolism, particularly in the esterification of cholesterol. It plays a vital role in regulating cellular cholesterol levels by converting free cholesterol into cholesterol esters, which are either stored in lipid droplets or transported via lipoproteins. SOAT2 is primarily expressed in tissues involved in lipid metabolism, including the liver, intestine, and macrophages. Its activity is tightly regulated and responsive to cholesterol levels, helping to prevent cholesterol toxicity and maintain lipid balance.

SOAT2

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.

TNFSF10

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.

POCD5

SCFD1 (Sec1 Family Domain Containing 1): SCFD1 is a gene that encodes a protein involved in vesicle trafficking, particularly in the transport of secretory proteins. It plays a role in regulating vesicle docking and fusion, which is essential for proper cellular function and intercellular communication.

SCFD1

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.

PTER

OOSP1 (Oocyte Secreted Protein 1): OOSP1 is a gene that encodes a protein primarily expressed in oocytes and involved in early embryonic development. It may play a role in oocyte maturation and in regulating processes during fertilisation and the initial stages of embryogenesis. Its function is important for reproductive health and successful embryonic development.

OOSP1

NTSR2 (Neurotensin Receptor 2): NTSR2 is a G protein-coupled receptor that binds neurotensin, a neurotransmitter involved in central nervous system functions such as analgesia, thermoregulation, and modulation of dopamine signalling. Activation of NTSR2 influences neural activity and has been linked to the pathophysiology of psychiatric disorders, making it a potential target for therapies in schizophrenia, mood disorders, and pain management.

NTSR2

TNFSF12 (Tumour Necrosis Factor Ligand Superfamily Member 12, TWEAK): TNFSF12 is a cytokine that belongs to the TNF superfamily and is involved in regulating immune responses, inflammation, tissue homeostasis, and cell death. It can act as both a pro-inflammatory and anti-inflammatory signal, influencing the production of cytokines and chemokines, recruiting immune cells, and modulating the activity of endothelial and other target cells.

TNFSF12

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.

TNFRSF13B

LRATD1 (Lecithin Retinol Acyltransferase Domain Containing 1): LRATD1 is a gene that encodes a protein containing a domain similar to lecithin retinol acyltransferase (LRAT), an enzyme involved in vitamin A metabolism. Although its precise functions are still being studied, LRATD1 is believed to play a role in processes related to the utilisation and regulation of vitamin A.

LRATD1

IL6 (Interleukin 6): IL6 is a cytokine that indicates the activity of the immune system and inflammation. It plays a vital role in coordinating the body’s defence mechanisms during infection and injury. IL6 helps regulate inflammatory responses and directs the mobilisation of immune cells to target threats. Researchers study IL6 to understand its complex interactions and its impact on both normal immune function and inflammatory diseases.

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.

MRPL39

TNF (Tumour Necrosis Factor): TNF is a cytokine that reflects the activity of the immune system in response to infection and tissue damage. TNF plays a key role in regulating inflammation and immune responses, and its dysregulation is associated with autoimmune diseases and chronic inflammatory conditions.

PREP (Prolyl Endopeptidase): PREP is an enzyme that indicates the activity of a serine protease involved in the breakdown of proline-containing peptides. It plays a key role in the metabolism of neuropeptides and peptide hormones, contributing to cognitive processes and the inflammatory response. Variations in PREP activity have been linked to neurological disorders, including Alzheimer’s disease, emphasising its role in neurodegeneration and cognitive function.

PREP

LY6K (Lymphocyte Antigen 6 Complex, Locus K): LY6K is a gene that encodes a protein belonging to the LY6/uPAR (lymphocyte antigen 6/urokinase-type plasminogen activator receptor) family. Although its exact function remains under investigation, LY6K may be involved in immune responses and cell signalling.

LY6K

STARD5 (StAR-Related Lipid Transfer Domain Containing 5): STARD5 is a protein that reflects the activity of the START domain family, involved in the transport and distribution of lipids within cells. It plays a key role in regulating lipid metabolism and maintaining lipid homeostasis, particularly in the liver and gastrointestinal tract. While its specific functions are still being studied, STARD5’s role in lipid transport suggests potential implications for metabolic disorders and diseases related to lipid dysregulation.

STARD5

ADRA1A (Adrenoceptor Alpha 1A): ADRA1A is a gene that encodes a subtype of alpha-1-adrenergic receptors, which are involved in the body’s responses to adrenaline and noradrenaline. These receptors play a key role in smooth muscle contraction and cardiovascular function, including blood pressure regulation and vascular tone. Changes in ADRA1A activity may influence cardiovascular health and autonomic nervous system function.

ADRA1A

TNR (Tenascin R): TNR is a gene that encodes an extracellular matrix protein mainly found in the central nervous system. It is involved in neural development, including synaptic plasticity and neuronal differentiation. TNR plays a role in forming neural networks and may influence neurodevelopmental and neurodegenerative processes.

ADH1B (Alcohol Dehydrogenase 1B): ADH1B is a gene that encodes an enzyme involved in the initial stage of alcohol metabolism, converting ethanol into acetaldehyde. Genetic variations in ADH1B can affect the rate of alcohol metabolism, influencing alcohol tolerance and the risk of alcohol-related illnesses.

ADH1B

SCAMP5 (Secretory Carrier Membrane Protein 5): SCAMP5 is a member of the SCAMP family, involved in membrane trafficking processes. It plays a crucial role in regulating membrane recycling and exocytosis, particularly in neurons. SCAMP5 is essential for neurotransmitter release and neuronal communication, and its function may have implications in neurological disorders.

SCAMP5

OVOL1 (Ovo Like Transcriptional Repressor 1): OVOL1 is a gene that encodes a transcriptional repressor involved in regulating gene expression during development and tissue differentiation. It plays a role in epithelial cell differentiation and the formation of tissue barriers.

OVOL1

MTRR (Methionine Synthase Reductase): MTRR is an enzyme that plays a vital role in regenerating methylcobalamin, supporting the continuous activity of MTR in homocysteine metabolism. It is essential for maintaining proper methionine levels and normal DNA synthesis. Mutations in MTRR are associated with homocystinuria, which may contribute to developmental and neurological complications. Understanding MTRR function offers insights into potential therapies for genetic disorders.

MTRR

LBP (Lipopolysaccharide-Binding Protein): LBP is a protein that plays a key role in the immune response to bacterial infections. It binds to bacterial lipopolysaccharides (LPS) and helps activate the innate immune system. LBP is an important component of the body’s defence against bacterial pathogens.

SCNN1G (Sodium Channel Epithelial 1 Subunit Gamma): SCNN1G is a gene that encodes the gamma subunit of the epithelial sodium channel (ENaC), which regulates sodium balance and fluid homeostasis in epithelial tissues such as the lung, kidney, and colon. This subunit is important for controlling the channel’s activity and response to regulatory signals, including hormones like aldosterone. Mutations or dysregulation of SCNN1G can affect fluid and electrolyte balance and contribute to related disorders.

SCNN1G

RAB38 is a member of the Ras-related protein family and serves as a key regulator of intracellular membrane trafficking, particularly within the endosomal-lysosomal system. Primarily located in the cytoplasm, RAB38 coordinates the movement and fusion of membrane-bound vesicles, ensuring correct sorting and delivery of cargo molecules. This protein plays a specialised role in melanosome biogenesis, supporting the maturation and transport of melanosomes — organelles responsible for melanin synthesis and distribution in melanocytes. Through its interactions with effector proteins and membrane fusion machinery, RAB38 facilitates these vital cellular processes.

RAB38

TSHR (Thyroid-Stimulating Hormone Receptor): TSHR is a measure that reflects the function of the thyroid-stimulating hormone receptor encoded by the TSHR gene. This receptor, located on the surface of thyroid cells, plays a central role in regulating thyroid hormone production and release in response to pituitary signals. Dysregulation of TSHR can contribute to thyroid disorders.

TSHR

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

RSPO3

SDK1 (Sidekick Cell Adhesion Molecule 1): SDK1 is a protein that plays a crucial role in cell adhesion and synaptic organisation. It is important for the formation of neural circuits, particularly in the visual system, and contributes to proper neural connectivity and communication.

SDK1

Ric3 (Resistance To Inhibitors Of Cholinesterase 3 Homolog): Ric3 is a protein involved in the maturation and trafficking of nicotinic acetylcholine receptors, which are essential for neuronal signalling. Ric3 plays a key role in the development and maintenance of the nervous system, and alterations in its function can have implications for neurological diseases.

Ric3

APP (Amyloid Precursor Protein): APP is a measure that reflects the role of a key transmembrane protein involved in various cellular processes, particularly within the central nervous system. APP is essential for neuronal development, synaptic plasticity, and cell signalling. Its processing generates amyloid-beta peptides, which are associated with the development of Alzheimer's disease. Proper regulation of APP processing and amyloid-beta production is vital for maintaining neuronal health and cognitive function, while dysregulation can contribute to Alzheimer's pathology.

PPP1R17 (Protein Phosphatase 1 Regulatory Subunit 17): PPP1R17 is a protein that acts as a regulatory subunit of protein phosphatase 1 (PP1). PP1 is crucial for dephosphorylating target proteins and is vital for cell signalling, metabolism, and the regulation of the cell cycle. PPP1R17 assists in modulating the activity and specificity of PP1, affecting a variety of cellular processes.

PPP1R17

MICB (MHC Class I Polypeptide-Related Sequence B): MICB is a stress-induced ligand for the NKG2D receptor, which is expressed on natural killer (NK) cells, CD8+ T cells, and certain γδ T cells. The interaction between MICB and NKG2D is essential for immune surveillance, helping the body recognise and eliminate malignant or infected cells. Upregulation of MICB on stressed, transformed or infected cells can activate an immune response, leading to targeted cell destruction. Therefore, MICB plays a key role in defence against cancer and viral infections.

MICB

QSOX2, also known as Quiescin Sulfhydryl Oxidase 2, is an enzyme that plays a crucial role in the oxidative folding of proteins, particularly those containing multiple disulfide bonds. Primarily found in the endoplasmic reticulum (ER) of cells, QSOX2 is vital for preserving protein structure and function by catalysing the formation of disulfide bonds between cysteine residues. This activity facilitates proper protein folding, stability, and secretion, acting as a thiol oxidase which transfers electrons from reduced cysteines to molecular oxygen.

QSOX2

FMN2 (Formin 2): FMN2 is a protein involved in cytoskeletal regulation, particularly in the formation of actin filaments. It plays a key role in cell division, movement, and morphogenesis, supporting the structural integrity and dynamic remodelling of the cytoskeleton. FMN2 is essential during cell division and nervous system development, and mutations in the FMN2 gene have been linked to impaired sperm motility, infertility, and certain developmental disorders.

FMN2

RGMA (Repulsive Guidance Molecule A): RGMA is a protein that regulates axon guidance during neural development. It plays a crucial role in directing neuronal migration and axon growth through repulsive signalling pathways. RGMA is essential for the formation of neural circuits and is associated with certain neurodevelopmental disorders.

RGMA

PSCA (Prostate Stem Cell Antigen): PSCA is a cell surface protein present in certain tissues, including the prostate. It has been researched for its potential role in prostate cancer, where it may serve as a biomarker and a possible target for treatment.

PSCA

ADARB2 (Adenosine Deaminase RNA-Specific B2): ADARB2 is an enzyme belonging to the adenosine deaminase family involved in RNA editing. It catalyses the conversion of adenosine to inosine in RNA molecules, a post-transcriptional modification that can alter RNA sequences, influencing their structure, function, and regulation of gene expression.

ADARB2

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

TGM2

C8ORF37 (Chromosome 8 Open Reading Frame 37): C8ORF37 is a gene associated with retinal dystrophies and Bardet-Biedl syndrome — a condition characterised by vision loss, obesity, and other symptoms. It plays a crucial role in maintaining photoreceptor cells and supporting cilia-related processes. Mutations in this gene can lead to retinal degeneration and disrupt normal ciliary function.

C8ORF37

NCF4 (Neutrophil Cytosolic Factor 4): NCF4 is a component of the NADPH oxidase complex that plays a central role in the body’s immune defence. It helps regulate the assembly and activation of this complex, enabling the production of reactive oxygen species (ROS) during the oxidative burst in phagocytes. This process is vital for destroying engulfed pathogens, and mutations in NCF4 can impair immunity, leading to increased susceptibility to infections.

NCF4

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

NOS1

OR13F1 (Olfactory Receptor, Family 13, Subfamily F, Member 1): OR13F1 is a protein that belongs to the olfactory receptor gene family—a group of G protein-coupled receptors involved in detecting odours. These receptors are found in the olfactory epithelium, where they bind specific odour molecules and trigger signalling pathways that result in the perception of smell. While the exact ligands and functions of OR13F1 are not yet fully understood, it plays a role in our sense of smell and may also be involved in pheromone detection.

OR13F1

RARB (Retinoic Acid Receptor Beta): RARB is a nuclear receptor that binds retinoic acid, a metabolite of vitamin A. It plays a crucial role in regulating gene expression during development, particularly in epithelial tissue growth, cell differentiation, and the formation of the nervous system. Altered RARB activity has been linked to cancers such as skin, lung, and breast cancer, as well as developmental disorders, and is being investigated for potential retinoid-based therapies.

RARB

SERINC2 (Serine Incorporator 2): SERINC2 is a protein from the SERINC family that facilitates the incorporation of serine into membrane lipids, supporting the biosynthesis and stability of cellular membranes. It plays key roles in maintaining membrane fluidity, regulating signalling pathways, and contributing to immune function. By influencing membrane composition, SERINC2 affects cell proliferation, differentiation, and programmed cell death, making it essential for cellular health and physiological balance.

SERINC2

OPTC (Opticin): Opticin is a glycoprotein found primarily in the vitreous humour of the eye. It plays a crucial role in maintaining the structural integrity of the vitreous body and may be involved in ocular development as well as certain eye diseases.

OPTC

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.

PSAP

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

TMEM258

TMEM51 (Transmembrane Protein 51): TMEM51 is a protein associated with membrane organisation and intracellular trafficking. While its precise functions remain unclear, it is believed to be involved in intracellular transport and cell signalling pathways.

TMEM51

ANKK1 (Ankyrin Repeat and Kinase Domain Containing 1): ANKK1 is a gene involved in signal transduction and may play a role in regulating dopamine receptors, which are crucial for brain function. Variants near ANKK1 have been associated with neuropsychiatric disorders and addiction, possibly due to their effect on dopamine signalling.

ANKK1

RALGDS (Ral Guanine Nucleotide Dissociation Stimulator): RALGDS is a guanine nucleotide exchange factor that regulates the activation of Ral GTPases. It plays a key role in signal transduction pathways, influencing cell growth, differentiation, and survival. Changes in RALGDS activity have been associated with cancer development and progression.

RALGDS

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

RADX

RFC4 (Replication Factor C Subunit 4): RFC4 is a component of the replication factor C complex, essential for DNA replication and cell cycle regulation. It plays a role in loading DNA polymerases onto DNA during replication and repair. Dysregulation of RFC4 can result in genomic instability and is a subject of investigation in cancer research.

RFC4

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

TMPRSS6

NUP62CL (Nucleoporin 62 C-Terminal Like): NUP62CL is a gene that encodes a component of the nuclear pore complex — a key structure in the nuclear envelope that regulates the movement of molecules between the nucleus and cytoplasm. Alterations in NUP62CL can disrupt nuclear transport and may be associated with neurodegenerative diseases and certain cancers.

NUP62CL

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

MOV10L1

NCR3 (Natural Cytotoxicity Triggering Receptor 3): NCR3 is a gene that encodes a receptor found on natural killer (NK) cells and certain T cells. It is involved in recognising and targeting infected or abnormal cells for destruction, playing a key role in the innate immune defence against viruses and tumour cells.

NCR3

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

MSRB2

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.

NR3C1

REX1BD (REX1 Basic Domain): REX1BD is a gene region characterised by a basic domain that may contribute to DNA binding or protein–protein interactions. While its exact functions and roles in cellular processes are not yet fully understood, ongoing research aims to clarify its significance in biological systems.

REX1BD

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

NCLN

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

KCTD15 (Potassium Channel Tetramerization Domain Containing 15): KCTD15 is a gene involved in neural development and the regulation of potassium channels. It plays a role in assembling potassium channel complexes, which are important for neuronal excitability. Dysregulation of KCTD15 may affect neural function.

KCTD15

NUDT9 (Nudix Hydrolase 9): NUDT9 is a gene that encodes a member of the Nudix hydrolase family. Proteins in this family are involved in the hydrolysis of nucleoside diphosphate derivatives. While the specific substrates and functions of NUDT9 are still being studied, it plays a role in nucleotide metabolism and cellular homeostasis.

NUDT9

MORC4 (MORC Family CW-Type Zinc Finger 4): MORC4 is a gene involved in chromatin remodelling and the regulation of gene expression. It plays important roles in cellular processes such as DNA repair and apoptosis. Mutations or dysfunctions in MORC4 may be associated with various cancers and developmental disorders, making it a key focus in research on gene regulation and cancer biology.

MORC4

KANSL1, also known as KAT8 Regulatory NSL Complex Subunit 1, is a protein that plays a key role in chromatin regulation and gene expression. It is a component of the Non-Specific Lethal (NSL) histone acetyltransferase (HAT) complex, which acetylates histone proteins, particularly histone H4 at lysine 16 (H4K16ac), a modification linked to transcriptional activation and chromatin remodelling. KANSL1 contributes to the regulation of gene expression by modifying chromatin structure, with the NSL complex targeting specific genomic regions to promote an open chromatin state and facilitate transcription.

KANSL1

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

LMF2

FANCA (Fanconi anaemia group A protein): FANCA is a gene that encodes a protein essential for the Fanconi anaemia (FA) DNA repair pathway, which helps maintain genomic stability. FANCA is involved in activating the FA core complex to recognise and repair DNA interstrand crosslinks (ICLs), harmful lesions that can obstruct DNA replication and transcription. By coordinating the assembly and recruitment of the FA core complex to damaged DNA, FANCA supports proper DNA repair and prevents genome instability.

FANCA

BMP6 (Bone Morphogenetic Protein 6): BMP6 is a member of the bone morphogenetic protein (BMP) family, which plays a key role in the development and repair of bone and cartilage. It is involved in essential cellular processes such as cell growth, apoptosis, and differentiation. BMP6 has been studied for its role in osteogenesis and is also associated with cancer progression.

BMP6

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.

PSD3

RUNX3 (Runt-Related Transcription Factor 3): RUNX3 is a gene that encodes a transcription factor involved in regulating gene expression. It contributes to key cellular processes, including cell differentiation and immune responses. Dysregulation of RUNX3 has been linked to cancer and developmental disorders.

RUNX3

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

TSLP

PIK3AP1 (Phosphoinositide-3-Kinase Adaptor Protein 1): PIK3AP1 is a protein that plays a crucial role in the PI3K signalling pathway. This pathway is vital for various cellular processes such as cell growth, proliferation, and survival. PIK3AP1’s involvement in immune cell signalling makes it significant in research related to immunity, inflammation, and cancer biology.

PIK3AP1

RGS18 (Regulator of G Protein Signalling 18): RGS18 is a protein involved in the regulation of G protein-coupled receptor signalling, particularly in haematopoietic cells. It plays significant roles in platelet function and immune responses, and its dysregulation may affect blood coagulation and contribute to immune system disorders.

RGS18

RAB11FIP2 (RAB11 Family Interacting Protein 2): RAB11FIP2 is a protein involved in intracellular trafficking, specifically in recycling proteins and membranes from the endocytic recycling compartment. It plays a crucial role in maintaining cellular homeostasis and ensuring proper membrane traffic, influencing processes such as signal transduction and immune responses.

RAB11FIP2

LSAMP (Limbic System-Associated Membrane Protein): LSAMP is a cell adhesion molecule predominantly expressed in the limbic system of the brain. It plays a crucial role in synaptic plasticity and is involved in neural development and function. LSAMP has been studied in connection with neuropsychiatric disorders and may have implications for conditions such as schizophrenia.

LSAMP

MT1X (Metallothionein 1X): MT1X is a member of the metallothionein family, proteins that play key roles in metal ion balance and detoxification, as well as protecting cells from oxidative stress. Metallothioneins bind heavy metals, helping to neutralise their toxicity and support their metabolism and elimination. MT1X, like other metallothioneins, is involved in responses to heavy metal exposure, oxidative stress, and inflammation, and is linked to various diseases, including cancer, due to its influence on cell growth and programmed cell death.

MT1X

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

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

PITX2

P2RY1 (Purinergic Receptor P2Y1): P2RY1 is a G-protein coupled receptor that responds to extracellular nucleotides such as ATP and ADP. It plays a crucial role in intracellular signalling pathways involved in platelet aggregation, regulation of vascular tone, and neurotransmission. Activation of P2RY1 is essential for triggering platelet aggregation following vessel injury, emphasising its importance in thrombosis and haemostasis. Dysregulation of P2RY1 signalling is associated with an increased risk of cardiovascular diseases, highlighting its significance in vascular health.

P2RY1

TBX2 (T-Box Transcription Factor 2): TBX2 is a gene that encodes a transcription factor belonging to the T-box family. It plays a crucial role in embryonic development and tissue differentiation, particularly in heart formation and limb development.

TBX2

PCDH7 (Protocadherin 7): PCDH7 is a gene that encodes a protein from the cadherin superfamily, involved in cell adhesion and neuronal connectivity. It plays a role in nervous system development and the maintenance of synaptic functions. Variations in PCDH7 have been linked to neurodevelopmental and psychiatric conditions, emphasising its importance in brain development and function.

PCDH7

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

SVEP1

MAP4K1 (Mitogen-activated protein kinase kinase kinase kinase 1): MAP4K1 is a signalling protein, also known as HPK1 (Hematopoietic progenitor kinase 1), and a member of the STE20 kinase family. It plays an important role in immune cell signalling, where it regulates T-cell activation and differentiation by acting upstream in the MAP kinase pathway. Through its role in modulating the immune response, MAP4K1 is considered a potential target for immunotherapy, particularly in autoimmune diseases and cancer.

MAP4K1

R3HCC1L (R3H Domain and Coiled-Coil Containing 1-Like): R3HCC1L is a gene that is not well characterised but is thought to be involved in RNA binding and regulation. Its domain structure suggests a role in RNA metabolism and cellular processes. Although its exact functions are still under investigation, R3HCC1L may have implications for human health and disease.

R3HCC1L

KCNK17 (Potassium Channel Subfamily K Member 17): KCNK17 is a gene that encodes a member of the two-pore domain potassium (K⁺) channel family. It plays a crucial role in ion channel function and is involved in regulating cellular excitability and membrane potential.

KCNK17

SETBP1 (SET Binding Protein 1): SETBP1 is a protein that interacts with SET, a key regulator of histone acetylation and chromatin remodelling. SETBP1 is involved in gene regulation and has been linked to developmental disorders and leukaemia.

SETBP1

PTBP2 (Polypyrimidine Tract Binding Protein 2): PTBP2 is a gene that encodes an RNA-binding protein involved in RNA splicing and the regulation of gene expression. It plays a crucial role in neuronal development and has been linked to neurodevelopmental disorders.

PTBP2

DRD1 (Dopamine Receptor D1): DRD1 is a gene that encodes a primary dopamine receptor in the brain, playing a central role in the dopaminergic system. It is involved in regulating reward, motivation, and motor control. Dysregulation of DRD1 has been associated with psychiatric disorders, including schizophrenia, as well as addictive behaviours.

DRD1

DRD3 (Dopamine Receptor D3): DRD3 is a gene that encodes a subtype of dopamine receptor expressed in the brain. It plays a role in regulating cognitive, emotional, and motor functions. Variants of DRD3 have been studied for their potential involvement in schizophrenia, Parkinson’s disease, and susceptibility to addictive behaviours.

DRD3

LMCD1 (LIM and Cysteine-Rich Domains 1): LMCD1 is a gene that encodes a protein involved in cardiac development and function. It plays a key role in regulating gene expression in heart muscle cells, influencing the development, structure, and maintenance of cardiac tissue. Alterations or dysfunctions in LMCD1 may affect heart performance and are associated with cardiovascular diseases, underlining its importance in understanding cardiac disorders and potential therapeutic targets.

LMCD1

TSPOAP1 (TSPO Associated Protein 1): TSPOAP1 is a gene that encodes a protein associated with the translocator protein (TSPO), which is involved in mitochondrial function and steroidogenesis. It plays a role in regulating cholesterol transport and mitochondrial respiration. While its specific functions are still being studied, TSPOAP1 may influence cellular energy metabolism and could have implications for neurodegenerative diseases and mood disorders.

TSPOAP1

NAA38 (N-Alpha-Acetyltransferase 38, NatC Catalytic Subunit): NAA38 is a component of the N-terminal acetyltransferase complex responsible for catalysing the transfer of acetyl groups to the N-terminus of proteins. This modification influences protein stability, localisation, and function. Although the precise biological roles and substrate specificity of NAA38 are not yet fully understood, N-terminal acetylation is a common and important post-translational modification. Studying NAA38 and similar enzymes helps reveal regulatory mechanisms of protein function and the impact of protein acetylation on cellular processes and disease.

NAA38

MYBPC3: The MYBPC3 gene encodes cardiac myosin-binding protein C, a key regulator of heart muscle contraction. Variants of this gene are a common cause of hypertrophic cardiomyopathy, a significant contributor to sudden cardiac death, especially in young athletes. It plays a crucial role in maintaining normal structure and function of the cardiac muscle.

MYBPC3

PFKP (Phosphofructokinase, Platelet): PFKP is a key enzyme in the glycolytic pathway that regulates the rate of glucose metabolism. It catalyses the conversion of fructose-6-phosphate to fructose-1,6-bisphosphate. Proper regulation of PFKP is essential for cellular energy production, and its dysregulation has been studied in cancer, where altered glucose metabolism is commonly observed.

PFKP

ILRUN, also known as interleukin-like RUN domain-containing protein, is a recently identified protein that plays a role in immune regulation. Located within the cytoplasm, ILRUN contains a RUN domain, which facilitates protein-protein interactions. Although its precise function is still under investigation, ILRUN is thought to modulate immune responses, potentially influencing cytokine production, immune cell activation, and inflammatory processes. It has also been proposed as a potential biomarker for certain immune-related or inflammatory conditions.

ILRUN

CLEC12A (C-Type Lectin Domain Family 12 Member A): CLEC12A encodes a protein belonging to the C-type lectin-like receptor family. It plays a significant role in the immune system by participating in cell signalling pathways that regulate immune responses, particularly in myeloid cells. CLEC12A has been extensively studied for its involvement in inflammation and leukaemia.

ORMDO3

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