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The DNA Cardiovascular Health test from GetTested provides a comprehensive insight into your cardiovascular health. By analyzing specific genes related to heart health, such as heart rate, heart rate variability, recovery after exertion, salt sensitivity, ApoB, TMAO, homocysteine, and LDL particle size, this test can offer valuable insights into your genetic predisposition for various heart-related conditions.
Lab Report and Recommendations
Once your results are ready, you will receive a detailed lab report from GetTested explaining your genetic insights and their significance for your cardiovascular health. The report also includes personalized recommendations to optimize your health based on your genetic results.
Sample and Integrity
The DNA and the original sample material are destroyed after analysis, and there is no personal connection to the sample other than your unique test ID to which your test results are linked. The information is completely anonymized, and the lab has no knowledge of whom it belongs to. We do not share or sell the results to any third party. You also have the option to delete your test results after reviewing them.
How It Works

Order the Test: Order your DNA Cardiovascular Health test online and have it delivered directly to your residence.
Collect Your Sample: Use the included test kit to easily collect a saliva sample at home.
Return the Sample: Send back your sample with the prepaid return envelope to our laboratory.
The Results: Within 6–8 weeks of receiving your sample, we analyze your genes and create a comprehensive response report.

The DNA Cardiovascular Health test from GetTested provides a comprehensive insight into your cardiovascular health. By analyzing specific genes related to heart health, such as heart rate, heart rate variability, recovery after exertion, salt sensitivity, ApoB, TMAO, homocysteine, and LDL particle size, this test can offer valuable insights into your genetic predisposition for various heart-related conditions. 
Lab Report and Recommendations 
Once your results are ready, you will receive a detailed lab report from GetTested explaining your genetic insights and their significance for your cardiovascular health. The report also includes personalized recommendations to optimize your health based on your genetic results. 
Sample and Integrity 
The DNA and the original sample material are destroyed after analysis, and there is no personal connection to the sample other than your unique test ID to which your test results are linked. The information is completely anonymized, and the lab has no knowledge of whom it belongs to. We do not share or sell the results to any third party. You also have the option to delete your test results after reviewing them. 
How It Works
Order the Test: Order your DNA Cardiovascular Health test online and have it delivered directly to your residence. 
Collect Your Sample: Use the included test kit to easily collect a saliva sample at home. 
Return the Sample: Send back your sample with the prepaid return envelope to our laboratory. 
The Results: Within 6–8 weeks of receiving your sample, we analyze your genes and create a comprehensive response report.

DNA Cardiovascular Health Test

SORBS3 (Sorbin and SH3 Domain Containing 3), also known as vinexin, is a gene involved in cytoskeletal organisation and cell signalling. It helps connect the cytoskeleton to the cell membrane and participates in pathways that regulate cell movement and adhesion. Changes in SORBS3 function may impact cellular structure and have been linked to cancer progression and metastasis.

SORBS3

ACYP2 (Acylphosphatase 2) is a gene that encodes an enzyme involved in hydrolysing acylphosphates, contributing to cellular energy metabolism. It plays a role in muscle function, potentially affecting muscle efficiency and endurance. Variations in ACYP2 have been associated with ageing and age-related conditions, highlighting its potential link to energy regulation and lifespan.

ACYP2

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

DLC1

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

ACOXL

SLC44A1 (Solute Carrier Family 44 Member 1) is a gene that encodes a protein responsible for transporting choline, an essential nutrient involved in the production of the neurotransmitter acetylcholine and the maintenance of cell membrane structure. This transporter supports vital processes such as nerve signalling and cell health. Disruptions in choline transport may impact brain function and have been associated with neurological disorders like Alzheimer’s disease.

SLC44A1

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

ADGRL4

CSNK1G1 (Casein Kinase 1 Gamma 1) is a gene that encodes a protein belonging to the casein kinase 1 family, involved in crucial cellular processes such as cell division, regulation of the circadian rhythm, and Wnt signalling. Through its function in Wnt signalling, CSNK1G1 may impact development and holds potential significance in cancer biology.

CSNK1G1

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

PDE6C

CWF19L2 (Cell Cycle and WD Repeat Domain-Containing Protein 19-Like 2) is a gene that encodes a protein with WD repeat domains, which are recognised for facilitating protein-protein interactions. While its exact function is not fully understood, it is believed to play a role in cellular signalling or regulatory processes, with ongoing research aimed at clarifying its specific contributions.

CWF19L2

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

ACTL7B

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

CSNK2A1

CYP2C9 (Cytochrome P450 Family 2 Subfamily C Member 9) is an enzyme that plays a vital role in metabolising many drugs and natural compounds in the body. It helps the liver detoxify and eliminate these substances. Variations in the CYP2C9 gene can influence how individuals process medications, affecting drug effectiveness and side effects, which is important for personalised medicine and dosing decisions.

CYP2C9

GTPBP10 (GTP-binding protein 10) is a gene that encodes a protein involved in cellular regulation through interactions with guanine nucleotides. As a member of the GTP-binding protein family, GTPBP10 is associated with processes such as protein synthesis, ribosome assembly, and mitochondrial function. Although its exact roles are still being studied, it may contribute to GTPase activity and play a part in maintaining cellular and mitochondrial homeostasis.

GTPBP10

DLG2 (Discs Large Homolog 2) is a gene that encodes a protein from the membrane-associated guanylate kinase (MAGUK) family, which is important for synaptic assembly and function. This protein plays a key role in the nervous system by supporting synaptic plasticity and neuronal signalling. Changes in DLG2 have been associated with neurological disorders, highlighting its importance in brain development and function.

DLG2

GALNT13 (Polypeptide N-Acetylgalactosaminyltransferase 13) is a gene that encodes an enzyme involved in the initiation of O-linked glycosylation—a key post-translational modification process. It transfers N-acetylgalactosamine (GalNAc) to specific protein sites in the Golgi apparatus, affecting protein trafficking, secretion, and cell surface interactions. GALNT13 plays a role in cell signalling, adhesion, and immune response, with its dysregulation linked to diseases such as cancer and metabolic disorders.

GALNT13

EDNRA (Endothelin Receptor Type A) is a receptor that binds endothelins, peptides involved in regulating blood vessel constriction and blood pressure. It plays a vital role in cardiovascular function and may contribute to the development of cardiovascular diseases.

EDNRA

CTNNA2 (Catenin Alpha 2) is a gene involved in cell adhesion and signalling, playing a key role in the nervous system. It contributes to synaptic plasticity and neuronal connectivity, essential for brain development and function. Alterations in CTNNA2 have been associated with neurological disorders.

CTNNA2

FAAP24 (Fanconi Anaemia-Associated Protein 24) is a key protein linked to Fanconi anaemia, a rare genetic disorder characterised by bone marrow failure and an increased risk of cancer. FAAP24 plays an essential role in the DNA repair process, helping to maintain genomic stability. It contributes to the complex mechanisms that protect the integrity of our genetic material by coordinating DNA repair activities.

FAAP24

FUT2 (Fucosyltransferase 2) is a gene that encodes an enzyme involved in the synthesis of histo-blood group antigens and the determination of secretor status. It catalyses the transfer of fucose to specific molecules, enabling the production of glycoproteins and glycolipids found in bodily fluids and epithelial tissues. FUT2 activity influences the expression of the H antigen — a key precursor to ABO blood group antigens — and plays a critical role in whether these antigens are present in secretions such as saliva.

FUT2

NIPSNAP3A (Nipsnap Homolog 3A) is a gene that encodes a protein believed to be involved in intracellular trafficking and mitochondrial function. Although its precise role remains unclear, it is thought to contribute to cellular metabolism and energy production. Ongoing research on NIPSNAP3A may provide insights into mitochondrial health and metabolic disorders.

NIPSNAP3A

VMP1 (Vacuole Membrane Protein 1) is a gene involved in autophagy, a vital cellular process responsible for breaking down and recycling cellular components. It plays a key role in the formation of autophagosomes, which help maintain cellular equilibrium. Dysregulation of VMP1 can disrupt cell homeostasis and has been associated with conditions such as pancreatitis and certain types of cancer.

VMP1

GSTM3 (Glutathione S-Transferase Mu 3) is a gene that encodes an enzyme from the glutathione S-transferase family, which is responsible for detoxifying harmful substances. It plays a crucial role in metabolising carcinogens, medications, and by-products of oxidative stress. Variations in GSTM3 may affect an individual’s susceptibility to cancer, neurodegenerative diseases, and other conditions linked to detoxification pathways.

GSTM3

CXCR2 (C-X-C Motif Chemokine Receptor 2) is a receptor that binds C-X-C motif chemokines, such as CXCL5, and is primarily found on neutrophils. It plays a crucial role in guiding neutrophil movement and activation during inflammation. CXCR2 is involved in various pathological conditions, including inflammatory diseases, cancer, and chronic obstructive pulmonary disease (COPD), making it a significant target for therapeutic interventions.

CXCR2

VPS37B is a gene that encodes a protein involved in the endosomal sorting complex required for transport (ESCRT) machinery. It plays a crucial role in intracellular membrane trafficking and protein sorting, particularly in the formation of multivesicular bodies (MVBs). By helping to direct ubiquitinated proteins towards lysosomal degradation, VPS37B contributes to maintaining cellular homeostasis and regulating signal transduction pathways.

VPS37B

ARRB1 (Arrestin Beta 1) is a protein that plays a key role in regulating G protein-coupled receptor (GPCR) signalling. It is involved in the desensitisation and internalisation of activated GPCRs, helping to switch off downstream signals. ARRB1 is important for processes such as sensory perception, neurotransmission, and hormonal regulation.

ARRB1

IRX6 (Iroquois Homeobox 6) is a gene that encodes a transcription factor from the Iroquois homeobox family, known for its role in early embryonic development. It contributes to the formation and patterning of organs and tissues, particularly in the heart and craniofacial regions. Alterations in IRX6 may be linked to developmental abnormalities and are of interest in studies of congenital and craniofacial disorders.

IRX6

DIAPH3 (Diaphanous-Related Formin 3) is a gene that encodes a protein involved in regulating the actin cytoskeleton, which is essential for cell shape, movement, and adhesion. It also plays a key role in cell division and has been linked to conditions such as auditory neuropathy and disorders affecting cellular motility.

DIAPH3

SLC4A4 (Solute Carrier Family 4 Member 4) is a gene that encodes a sodium bicarbonate cotransporter involved in regulating the body’s acid-base balance. Predominantly expressed in the kidneys and pancreas, it plays a crucial role in bicarbonate reabsorption and pH regulation. Disruptions in SLC4A4 function can impair the body’s ability to maintain acid-base homeostasis, contributing to conditions such as renal tubular acidosis.

SLC4A4

SPINK5 (Serine Peptidase Inhibitor, Kazal Type 5) is a gene that encodes a protein responsible for regulating enzyme activity in the skin. This protein helps maintain the integrity of the skin barrier and supports immune defence. Mutations in SPINK5 are associated with Netherton syndrome, a condition characterised by skin inflammation, scaling, and an increased risk of allergies.

SPINK5

AKR1A1 (Aldo-Keto Reductase Family 1 Member A1) is a gene that encodes an enzyme involved in cellular detoxification and metabolism. It helps reduce aldehydes and ketones, contributing to the regulation of oxidative stress and the breakdown of harmful compounds. AKR1A1 also plays a role in glucose and steroid metabolism, as well as the synthesis of prostaglandins and neurotransmitters, supporting overall cellular balance and protection against oxidative damage.

AKR1A1

DES (Desmin) is a gene that encodes an intermediate filament protein essential for the structural stability of muscle cells. It helps maintain the integrity and function of skeletal and cardiac muscle tissue. Mutations in DES are linked to muscle disorders, including myopathies and cardiomyopathies, emphasising its key role in muscle health.

ADH4 (Alcohol Dehydrogenase 4) is an enzyme belonging to the alcohol dehydrogenase family. It plays a key role in the metabolism of various alcohols, including ethanol. Additionally, ADH4 is involved in converting retinol (vitamin A) into retinaldehyde, a crucial step for vision and overall retinoid metabolism.

ADH4

MICB (MHC Class I Polypeptide-Related Sequence B) is a gene that encodes a stress-induced protein involved in immune system activation. It acts as a ligand for the NKG2D receptor on natural killer (NK) cells and certain T cells, aiding the immune system in recognising and responding to infected or transformed cells. MICB expression increases under conditions of cellular stress, such as viral infection or tumour development, enhancing immune surveillance and targeted cell destruction.

ASCC3

TPMT (Thiopurine S-Methyltransferase): TPMT is an enzyme that metabolizes thiopurine drugs, such as azathioprine, mercaptopurine, and thioguanine, which are used in autoimmune diseases and cancer treatment. Genetic variations in TPMT affect enzyme activity, influencing drug breakdown and toxicity risk. Individuals with low TPMT activity are at higher risk of severe bone marrow suppression. Testing TPMT helps adjust thiopurine dosage to reduce adverse effects and improve treatment safety.

TPMT

AAK1 (AP2-Associated Kinase 1) is a gene that encodes a protein kinase involved in clathrin-mediated endocytosis — a key process cells use to internalise molecules from their surroundings. AAK1 helps regulate the internalisation and trafficking of cell surface receptors, supporting essential cellular functions such as signalling and membrane recycling.

AAK1

SLC24A2 (Solute Carrier Family 24 Member 2) is a gene that encodes a potassium-dependent sodium/calcium exchanger, which helps maintain calcium balance within cells. It is primarily expressed in the retina and brain, indicating important roles in vision and neural function. Changes or malfunctions in SLC24A2 may affect neurological and visual health.

SLC24A2

SLC22A23 (Solute Carrier Family 22 Member 23) is a gene that encodes a transporter protein involved in the movement of organic ions and small molecules across cell membranes. Although its precise function and substrates are not fully established, SLC22A23 is thought to play a role in the transport of organic compounds in various tissues, potentially affecting drug metabolism and other physiological processes.

SLC22A23

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

ARHGAP9

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

SLC35F1

GFI1 (Growth Factor Independent 1 Transcriptional Repressor) is a gene that encodes a transcriptional repressor involved in regulating haematopoiesis and immune function. It plays a key role in the development of neutrophils and T cells, as well as stem cell differentiation. Disruptions in GFI1 activity have been associated with immune deficiencies and blood-related cancers, highlighting its importance in immune and haematological health.

GFI1

ADAMTS8 (A Disintegrin And Metalloproteinase With Thrombospondin Motifs 8) is an enzyme involved in remodelling the extracellular matrix, which is essential for tissue development and repair. It plays a role in regulating angiogenesis and may act to inhibit tumour growth and the spread of cancer. Research on ADAMTS8 explores its impact on cancer progression and vascular diseases.

ADAMTS8

SHPRH (SNF2 Histone Linker PHD RING Helicase) is a gene that encodes a DNA helicase involved in repairing DNA damage and maintaining genomic stability. It plays a key role in the DNA damage response by helping to repair double-strand breaks, which prevents mutations that could lead to cancer. SHPRH is recognised as a tumour suppressor, with mutations linked to increased risks of various cancers.

SHPRH

BSN (Bassoon Presynaptic Cytomatrix Protein) is a gene that encodes a protein essential for organising active zones at synaptic terminals. This protein supports neurotransmitter release and plays a key role in synaptic transmission and plasticity, which are critical for learning and memory. Changes in BSN function or expression may affect neurological health and have been linked to neuropsychiatric disorders.

D2HGDH (D-2-Hydroxyglutarate Dehydrogenase) is a mitochondrial enzyme involved in the metabolism of D-2-hydroxyglutarate, a cellular by-product. It helps prevent the harmful accumulation of this compound. Dysfunction of D2HGDH is linked to D-2-hydroxyglutaric aciduria, a condition associated with symptoms such as developmental delays, epilepsy, and heart problems.

D2HGDH

IRS1 (Insulin Receptor Substrate 1) is a key signalling protein that helps mediate the body’s response to insulin and growth factors. Acting as an adaptor, IRS1 connects activated insulin receptors to various downstream pathways, regulating processes like glucose uptake, glycogen synthesis, protein production, and cell growth. Dysregulation of IRS1 is linked to insulin resistance, type 2 diabetes, and may also play roles in cancer and cardiovascular diseases.

IRS1

ADGRB1 (Adhesion G Protein-Coupled Receptor B1) is a protein that belongs to the adhesion G protein-coupled receptor family. Also known as BAI1, it plays important roles in processes such as clearing apoptotic cells (phagocytosis) and supporting synaptic development in the brain.

ADGRB1

NUDT15 (Nudix Hydrolase 15) is an enzyme that plays a crucial role in the metabolism of thiopurine medications, including azathioprine, mercaptopurine, and thioguanine. Genetic variations in NUDT15 can decrease its activity, increasing the risk of severe side effects such as bone marrow suppression. Testing for NUDT15 helps determine the appropriate thiopurine dosage to reduce toxicity and improve treatment safety.

NUDT15

ACVR1 (Activin Receptor Type 1) is a gene that encodes a receptor for activin, a protein involved in regulating cell growth and differentiation. This receptor plays a key role in signalling pathways that control how cells proliferate and develop. Mutations in ACVR1 are linked to fibrodysplasia ossificans progressiva (FOP), a rare genetic disorder characterised by abnormal bone formation in soft tissues.

ACVR1

ADAM17 (A Disintegrin and Metalloproteinase 17) is an enzyme that regulates the release of membrane-bound proteins, such as growth factors, cytokines, and receptors. It plays a crucial role in cell signalling, inflammation, and tissue remodelling, and its dysregulation has been linked to conditions including arthritis, cancer, and cardiovascular disease.

ADAM17

H4C13 (Histone Cluster 4, H4C13) is a gene that encodes a component of histone H4, a core protein essential for chromatin structure in eukaryotic cells. Histones are key regulators of gene expression and DNA repair, playing a vital role in maintaining genomic stability.

H4C13

APBB1IP (Amyloid Beta Precursor Protein-Binding Family B Member 1 Interacting Protein), also known as RIAM, is a protein that plays a crucial role in integrin activation, which is vital for cell adhesion and migration. By linking Rap1 GTPases to the actin cytoskeleton, APBB1IP facilitates cell attachment to the extracellular matrix, affecting immune cell function, wound healing, and tumour metastasis. Its role in these processes renders it significant for research into immune regulation and cancer.

APBB1IP

SMIM21 (Small Integral Membrane Protein 21) is a gene that encodes a membrane protein whose role in cellular functions remains unclear. It may participate in signalling or transport processes within the cell, but further research is required to understand its specific functions and potential impact on health and disease.

SMIM21

ADCY3 (Adenylate Cyclase 3) is a gene that encodes an enzyme responsible for converting ATP into cyclic AMP (cAMP), a vital signalling molecule. ADCY3 plays an important role in regulating cellular processes such as neurotransmission and hormone signalling. It is also implicated in neuropsychiatric disorders and metabolic regulation.

ADCY3

FCER1A (High Affinity Immunoglobulin E Receptor Subunit Alpha) is a gene that encodes a protein essential for allergic reactions. It binds to immunoglobulin E (IgE) and activates mast cells and basophils, triggering the release of histamine and other inflammatory mediators. This process contributes to allergy and asthma symptoms, making FCER1A a key target for therapies aimed at reducing allergic responses.

FCER1A

DOK6 (Docking Protein 6) is a member of the DOK protein family that acts as a substrate and regulator of tyrosine kinases. It plays a crucial role in signalling pathways involved in nerve cell growth, differentiation, and function, with potential implications for neurological disorders.

DOK6

The AGT gene plays a vital role in regulating blood pressure and maintaining the body's fluid balance. Variations or mutations in the AGT gene can influence the risk of developing hypertension and other cardiovascular diseases. Understanding the function of AGT is essential for managing these health conditions.

ADAMTS18 is a gene that encodes an enzyme involved in the processing of extracellular matrix components. This enzyme plays an important role in tissue development and maintenance. Mutations in ADAMTS18 have been linked to abnormalities in the eyes, skin, and skeleton.

ADAMTS18

SOX4 (SRY-Box Transcription Factor 4) is a transcription factor involved in regulating embryonic development and determining cell fate. It plays essential roles in the development of the heart, pancreas, and lymphocytes. SOX4 also influences cancer progression by regulating cell growth, programmed cell death, and metastasis, emphasising its importance in both development and tumourigenesis.

SOX4

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.

ADAM32

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.

DACH1

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.

ACAN

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.

KCTD9

AGMO (Alkylglycerol Monooxygenase) is a gene that encodes an enzyme involved in lipid metabolism, particularly in the breakdown of ether lipids. This enzyme contributes to the regulation of bioactive lipids, which influence cell signalling and inflammatory responses. Alterations in AGMO activity may be linked to lipid-related disorders and inflammatory conditions.

AGMO

GPSM1 (G Protein Signalling Modulator 1) is a gene involved in regulating G protein signalling pathways, which are essential for cellular responses to external signals. It plays a role in cell polarisation and directional movement. GPSM1 has been studied for its potential involvement in cancer, particularly in tumour cell migration and invasion.

GPSM1

DLG5 (Discs Large Homolog 5) is a protein that belongs to the Discs Large (DLG) family, involved in organising cellular structures and facilitating signal transmission at cell junctions. It plays an important role in maintaining the integrity of epithelial cells and may be linked to conditions such as inflammatory bowel diseases (IBD), including Crohn’s disease.

DLG5

MMUT (Methylmalonyl-CoA Mutase) is a gene that encodes a mitochondrial enzyme vital for energy metabolism. It catalyses the conversion of methylmalonyl-CoA to succinyl-CoA, a key step in the breakdown of certain amino acids and fatty acids. This reaction supports the citric acid cycle and overall cellular energy production. Mutations in MMUT can cause methylmalonic acidemia (MMA), a rare metabolic disorder characterised by a toxic build-up of methylmalonic acid in the body.

MMUT

Death-Associated Protein (DAP) is a key regulator of cell death, playing an important role in apoptosis — the programmed cell death process. This mechanism is essential for maintaining healthy cells and preventing diseases such as cancer. Understanding DAP’s function is crucial for studying the cell life cycle and developing treatments for conditions where cell death regulation is impaired.

DCDC2B (Doublecortin Domain Containing 2B) is a protein that belongs to the doublecortin family, recognised for its role in brain development. Proteins in this family contain doublecortin domains that bind to microtubules, assisting in guiding neuronal migration and the proper formation of the cerebral cortex. The correct functioning of DCDC2B is essential for normal brain development, and alterations in this protein may be linked to neurological disorders and developmental problems.

DCDC2B

ATP2B4 is a gene that encodes a calcium pump responsible for removing calcium ions from cells. This pump plays a vital role in maintaining intracellular calcium balance, which is essential for muscle contraction, cell signalling, and nerve function. Proper regulation of ATP2B4 is important for cardiovascular health, and its dysfunction has been linked to heart-related diseases.

ATP2B4

CSF3R (Colony Stimulating Factor 3 Receptor) is a receptor that binds to colony-stimulating factor 3 (CSF3), a cytokine responsible for regulating the production, differentiation, and function of granulocytes. This interaction is essential for the survival and activation of neutrophils, key cells in the body’s innate immune defence. Alterations in CSF3R, such as mutations or overexpression, can disrupt granulocyte function and proliferation, contributing to conditions like chronic neutrophilic leukaemia and severe congenital neutropenias.

CSF3R

ARL4A (ADP-Ribosylation Factor-Like 4A) is a protein belonging to the ADP-ribosylation factor (ARF) family of small GTPases. It plays a crucial role in regulating intracellular vesicle trafficking and membrane dynamics. ARL4A is involved in processes such as membrane remodelling, vesicle formation, and membrane fusion within cells.

ARL4A

ADAM15 (A Disintegrin and Metalloproteinase 15) is a member of the ADAM protein family, which are involved in cell adhesion, migration, and the proteolysis of extracellular matrix proteins. ADAM15 plays important roles in cell signalling and tissue remodelling processes.

ADAM15

PIGN (Phosphatidylinositol Glycan Anchor Biosynthesis Class N) is a gene involved in the synthesis of glycosylphosphatidylinositol (GPI) anchors, which attach certain proteins to the cell membrane. These GPI-anchored proteins are vital for functions such as cell adhesion, signal transmission, and immune system activity. Mutations in PIGN can impair GPI anchor formation, resulting in conditions characterised by developmental delays, neurological issues, and congenital defects.

PIGN

BTBD7 (BTB Domain Containing 7) is a protein involved in regulating epithelial-mesenchymal transition (EMT), a crucial process in embryonic development, tissue repair, and cancer metastasis. It helps control cell shape and movement by affecting the cell’s internal structure. Dysregulation of BTBD7 is linked to fibrosis and tumour progression, emphasising its role in tissue remodelling and its potential as a therapeutic target in fibrotic diseases and metastatic cancer.

BTBD7

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.

ANAPC4

DBX1 (Developing Brain Homeobox 1) is a transcription factor that plays a crucial role in the development of the spinal cord and nervous system. It is essential for directing the differentiation of neural progenitor cells and ensuring the proper formation of neural structures during early development.

DBX1

The UNCX (Unc-4 Homeobox) gene encodes a transcription factor that contains a homeobox domain. It plays a vital role in neuronal development by helping to define neuronal identity and guiding axon connections within the developing nervous system.

UNCX

BBX (Bobby Sox Homolog) is a transcriptional regulator that helps control cell proliferation and differentiation. It plays an important role in embryonic development and is involved in regulating circadian rhythms. Proper BBX function is essential for normal development and maintaining regular biological cycles.

SSBP3 (Single Stranded DNA Binding Protein 3) is a protein that binds specifically to single-stranded DNA. It plays an important role in DNA repair and replication, helping to maintain genomic stability. By supporting the cell’s response to DNA damage, SSBP3 is crucial for proper cellular function and has potential implications in cancer biology.

SSBP3

ARL4C (ADP Ribosylation Factor Like GTPase 4C) is a member of the ADP-ribosylation factor family of GTP-binding proteins. It is involved in cellular signalling and membrane trafficking, playing important roles in cytoskeletal organisation and cell movement. ARL4C expression has also been associated with the development and progression of certain cancers.

ARL4C

SLC2A9 (Solute Carrier Family 2 Member 9) is a gene that encodes a transporter protein responsible for moving urate in the kidneys. This protein plays a key role in regulating uric acid levels in the blood and is linked to the risk of developing gout.

SLC2A9

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

SFTPA1

SLC6A2 (Solute Carrier Family 6 Member 2) is a protein that functions as the noradrenaline transporter, responsible for the reuptake of noradrenaline into presynaptic nerve terminals. This transporter plays a key role in regulating mood, alertness, and stress response. It is also a target for certain antidepressant medications. Dysfunctions in SLC6A2 are associated with psychiatric and neurological conditions such as depression and attention deficit hyperactivity disorder (ADHD).

SLC6A2

BCAT1 (Branched Chain Amino Acid Transaminase 1) is an important enzyme that helps regulate the metabolism of branched-chain amino acids (BCAAs) — leucine, isoleucine, and valine. It primarily works in the cytosol of brain tissues and certain tumours, where it catalyses the reversible conversion of BCAAs into their α-keto acids, starting their breakdown process. BCAT1 plays a key role in maintaining nitrogen balance and supporting neurotransmitter production, which influences brain function and development. Additionally, BCAT1 is involved in cancer cell growth and metabolism, making it a potential biomarker for some cancers.

BCAT1

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

IGF2

EGR2 (Early Growth Response 2) is a transcription factor that plays a crucial role in regulating the development of the nervous and immune systems. It is especially important for the process of myelination in the peripheral nervous system and helps regulate cell growth and differentiation. Mutations in EGR2 are associated with Charcot-Marie-Tooth disease and related neuropathies, highlighting its vital role in neural development and function.

EGR2

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

SPATA2L

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

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.

ARHGAP32

ALG13 is a gene that encodes a key subunit of the UDP-N-acetylglucosaminyltransferase complex, which is involved in the early stages of glycosylation. Glycosylation is an essential cellular process where carbohydrates are attached to proteins or lipids, influencing their folding, stability, and function. ALG13 plays a vital role in synthesising the glycan precursor needed for proper protein glycosylation within the endoplasmic reticulum. Mutations in ALG13 are associated with congenital disorders of glycosylation, leading to various clinical issues such as developmental delays, epilepsy, and metabolic problems.

ALG13

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

BTN3A2 (Butyrophilin Subfamily 3 Member A2) is a protein belonging to the butyrophilin family, which plays a crucial role in regulating immune responses. BTN3A2 is involved in the activation and differentiation of T cells, essential components of the body’s immune defence. It contributes to immune surveillance and has been associated with autoimmune diseases and cancer.

BTN3A2

CHRNB2 (Cholinergic Receptor Nicotinic Beta 2 Subunit) is a gene that encodes a subunit of the nicotinic acetylcholine receptors. These receptors are essential for neuronal signalling and communication in the nervous system. Variations in CHRNB2 have been linked to epilepsy, especially nocturnal frontal lobe epilepsy, highlighting its role in regulating neuronal excitability and synaptic transmission.

CHRNB2

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.

ETV3

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

BCL11B

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.

FFAR4

SHISA4 (Shisa Family Member 4) is a protein involved in regulating synaptic function and neuronal excitability. It modulates the activity of key receptors in the central nervous system, including AMPA and NMDA receptors, playing a vital role in neuronal signalling and synaptic plasticity. Due to its role in synaptic modulation, SHISA4 is of interest in research into neurological disorders and synaptic dysfunction.

SHISA4

ABCB4 (ATP Binding Cassette Subfamily B Member 4) is a gene that encodes a transporter protein responsible for moving phospholipids from liver cells into bile. This function is essential for maintaining healthy bile composition and protecting the liver from toxic accumulation. Mutations in ABCB4 can disrupt this process and are associated with liver disorders such as cholelithiasis.

ABCB4

C10ORF67 (Chromosome 10 Open Reading Frame 67), also referred to as SASP, is a gene involved in regulating cell proliferation and migration. Although its precise molecular function remains unclear, it is associated with signalling pathways that affect cellular senescence and the senescence-associated secretory phenotype (SASP). This association underlines its potential significance in ageing, cancer development, and tissue regeneration.

C10ORF67

EDAR (Ectodysplasin A Receptor) is a receptor that plays a crucial role in the development of skin appendages such as hair, teeth, and sweat glands. Proper functioning of EDAR is essential for the formation of these structures, and mutations in this gene can cause ectodermal dysplasias, a group of disorders characterised by abnormal development of these features.

SLC4A4

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