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DNA Skin & Beauty from GetTested
Are you interested in enhancing your skin health and beauty routine in a personalized way? With our DNA Skin & Beauty test, you can take a step closer to achieving beauty tailored just for you.
Who is the Test Suitable For?
The DNA Skin & Beauty test is perfect for anyone looking to optimize their skincare. If you are interested in understanding how your genes affect your skin, this is the test for you. You will receive recommendations in the result report, based on your unique genes.
How Does the Test Work?
You will receive a test kit at home and easily collect a saliva sample at your convenience. Once you have collected your sample, send it back in the prepaid return envelope. After this, it takes 6-8 weeks to receive your results, which are delivered digitally, providing you with a detailed genetic analysis of your skin and beauty genes.
About the Sample Material
The DNA and original sample material are destroyed after analysis and there is no personal connection to the sample except for 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 give or sell the results to any third party. You also have the option to remove your test results after receiving them.

DNA Skin & Beauty from GetTested 
Are you interested in enhancing your skin health and beauty routine in a personalized way? With our DNA Skin & Beauty test, you can take a step closer to achieving beauty tailored just for you. 
Who is the Test Suitable For? 
The DNA Skin & Beauty test is perfect for anyone looking to optimize their skincare. If you are interested in understanding how your genes affect your skin, this is the test for you. You will receive recommendations in the result report, based on your unique genes. 
How Does the Test Work? 
You will receive a test kit at home and easily collect a saliva sample at your convenience. Once you have collected your sample, send it back in the prepaid return envelope. After this, it takes 6-8 weeks to receive your results, which are delivered digitally, providing you with a detailed genetic analysis of your skin and beauty genes. 
About the Sample Material 
The DNA and original sample material are destroyed after analysis and there is no personal connection to the sample except for 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 give or sell the results to any third party. You also have the option to remove your test results after receiving them.

DNA Skin & Beauty Test

ABCG2 (ATP-Binding Cassette Subfamily G Member 2) is a protein that acts as a cellular transporter, moving various molecules—including drugs, toxins, and metabolites—out of cells. As a member of the ATP-binding cassette (ABC) transporter family, it plays a crucial role in protecting tissues from harmful substances and contributes to drug resistance.

ABCG2

DLEU7 (Deleted in Lymphocytic Leukaemia 7) is a gene identified for its potential role in cancer biology, particularly in chronic lymphocytic leukaemia (CLL). It is believed to influence key processes such as cell cycle control and programmed cell death (apoptosis). Loss or malfunction of DLEU7 may contribute to cancer development and progression, making it a focus of research for new diagnostic markers and targeted therapies.

DLEU7

ACP1 (Acid Phosphatase 1, Soluble) is a gene that encodes an enzyme involved in various cellular processes, including signal transduction and energy metabolism. It exists in several isoforms with distinct roles, affecting immune function and cellular signalling. Variations in ACP1 have been linked to an increased susceptibility to certain autoimmune disorders and metabolic conditions.

ACP1

ADGRL3 (Adhesion G Protein-Coupled Receptor L3) is a gene that encodes a protein in the adhesion G protein-coupled receptor family, which facilitates cell-to-cell communication and supports the development and function of the nervous system. It plays a key role in brain formation, neuronal signalling, and maintaining neural connectivity. Variations in ADGRL3 have been associated with neurological conditions, including attention deficit hyperactivity disorder (ADHD).

ADGRL3

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

CYP4F2

CYP4V2 (Cytochrome P450 Family 4 Subfamily V Member 2) is an enzyme involved in fatty acid and lipid metabolism, including the production of fatty acid epoxides that play a role in regulating blood pressure and controlling inflammation. Variants of CYP4V2 are associated with Bietti’s crystalline dystrophy, a rare retinal disorder that can lead to progressive vision loss, highlighting its significance in both lipid metabolism and eye health.

CYP4V2

DAAM2 (Dishevelled Associated Activator of Morphogenesis 2) is a protein that regulates cytoskeletal organisation and cell shape. It plays an important role in processes such as cell movement, tissue development, and morphogenesis.

DAAM2

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

CXCL5

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

DHFR

GRIN3A (Glutamate Ionotropic Receptor NMDA Type Subunit 3A) is a gene that encodes a subunit of the NMDA receptor, which belongs to the glutamate receptor family. NMDA receptors are vital for synaptic plasticity, learning, and memory, playing a key role in neuronal communication. Variations in GRIN3A can affect brain function and are of interest in neurological research.

GRIN3A

SIVA1 (SIVA1 Apoptosis-Inducing Factor) is a protein involved in regulating programmed cell death, or apoptosis. It plays a role in controlling cell survival and death pathways, helping maintain the balance between healthy cell function and the elimination of damaged cells. Research on SIVA1 focuses on understanding its impact on cellular fate and its potential links to various diseases.

SIVA1

FADS2 (Fatty Acid Desaturase 2) is an enzyme that plays a key role in the production of polyunsaturated fatty acids — essential components of cell membranes and precursors to important signalling molecules. Variations in FADS2 activity can affect how the body processes essential fatty acids and are linked to metabolic and inflammatory health outcomes.

FADS2

WNK1 (WNK Lysine Deficient Protein Kinase 1) is a serine/threonine kinase that plays a crucial role in regulating electrolyte balance and blood pressure. It affects sodium and potassium transport in the kidneys, aiding in the maintenance of fluid balance and vascular function. Variants of WNK1 can disrupt this regulation, contributing to hereditary hypertension and electrolyte disorders.

WNK1

B4GALT6 (Beta-1,4-galactosyltransferase 6) is an enzyme that plays a crucial role in the biosynthesis of glycosaminoglycans (GAGs) — complex carbohydrates found in proteoglycans. Primarily located in the Golgi apparatus, it catalyses the transfer of galactose from UDP-galactose to core proteins, initiating the formation of GAG chains such as chondroitin sulphate.

B4GALT6

ENOX1 (Ecto-NOX Disulfide-Thiol Exchanger 1) is a protein that facilitates electron transfer across the cell membrane, contributing to cellular redox balance. It is associated with the regulation of cell growth and the ageing process, although its precise role in human physiology and disease remains not fully defined.

ENOX1

ATP5MK (ATP Synthase Membrane Subunit K) is a component of the mitochondrial ATP synthase complex, essential for producing ATP during cellular respiration. It supports cellular energy metabolism, and impairments in its function can disrupt energy balance, potentially leading to metabolic disorders.

ATP5MK

IGFBP3 (Insulin-Like Growth Factor Binding Protein 3) is a protein that binds to insulin-like growth factors (IGFs), regulating their availability and activity within the body. This regulation affects cell growth, development, and metabolism. IGFBP3 is extensively studied in cancer research, as it can either inhibit or enhance IGF effects depending on the cellular environment, making it a crucial factor in tumour growth and potential therapeutic strategies.

IGFBP3

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

CHRNB3

SLC7A1 (Solute Carrier Family 7 Member 1) is a gene that encodes a transporter protein responsible for the uptake of amino acids, particularly arginine and lysine. These amino acids are essential for cell growth, nitric oxide production, and various metabolic processes. SLC7A1 also plays a role in immune regulation and has been associated with certain cancers, making it a significant focus in biomedical research.

SLC7A1

ATP5PD (ATP Synthase Peripheral Stalk Subunit DAPIT) is a protein subunit of mitochondrial ATP synthase, an enzyme complex essential for cellular energy production. It contributes to the synthesis of ATP — the primary energy currency of cells — and supports mitochondrial integrity, playing a critical role in maintaining overall cellular metabolism.

ATP5PD

EPAS1 (Endothelial PAS Domain Protein 1) is a transcription factor, also known as HIF-2α, that assists the body in responding to low oxygen (hypoxia) in tissues. It regulates genes involved in red blood cell production, iron metabolism, and blood vessel formation. EPAS1 is associated with high-altitude adaptation and plays a role in certain diseases, including some cancers.

EPAS1

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

FCRL3

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

CHODL

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

BLOC1S2

VWC2L (von Willebrand Factor C Domain Containing Protein 2 Like): The von Willebrand factor C domain-containing protein 2-like (VWC2L) is a relatively obscure protein distinguished by the presence of a von Willebrand factor C domain — a structural characteristic commonly associated with extracellular matrix interactions and cell adhesion. It is believed to play a role in tissue development and structural integrity, although its exact function in human health and disease remains not fully defined.

VWC2L

EPDR1 (Epidermal growth factor receptor pathway substrate 15-related protein 1) is a protein involved in cellular signalling, similar to MMP15’s role in extracellular matrix dynamics. As part of the epidermal growth factor receptor (EGFR) pathway substrate family, EPDR1 participates in regulating key processes like cell proliferation, survival, and differentiation. It interacts with important signalling molecules to modulate growth factor signalling cascades, helping cells respond to external signals such as growth factors and cytokines. Through these actions, EPDR1 influences cell fate decisions and maintains tissue homeostasis.

EPDR1

ACTN3 is a gene that encodes the protein Alpha-actinin-3, which is predominantly found in fast-twitch muscle fibres. These fibres are essential for producing rapid and powerful muscle contractions, key to explosive athletic performance. Variations in the ACTN3 gene, especially the R577X polymorphism, are associated with differences in sprinting ability and endurance, making this gene important in sports genetics.

ACTN3

ZBTB49 (Zinc Finger and BTB Domain Containing 49) is a transcription factor involved in regulating gene expression through DNA binding and chromatin remodelling. As a member of the ZBTB family, it contributes to key cellular processes such as proliferation, differentiation, and development. Although the specific functions of ZBTB49 are not fully understood, its role in transcriptional regulation suggests it may influence cell fate decisions and could have important implications for cancer and developmental disorders.

ZBTB49

BHMT2 (Betaine-Homocysteine S-Methyltransferase 2) is a gene involved in homocysteine metabolism, functioning similarly to its counterpart, BHMT. It aids in the conversion of homocysteine to methionine, a process essential for cardiovascular and neurological health. Although it has been studied less extensively than BHMT, BHMT2 affects homocysteine levels in the body, which may influence heart function and neurological disorders. Understanding the role of BHMT2 can offer insights into its impact on metabolic pathways and disease risk.

BHMT2

BDNF (Brain-Derived Neurotrophic Factor) is a gene that encodes a protein essential for the survival, growth, and maintenance of neurons in the brain. BDNF plays a vital role in synaptic plasticity, learning, and memory. Changes in BDNF levels have been associated with a range of neurological and psychiatric conditions.

BDNF

CSK (C-Src Tyrosine Kinase) is an important regulatory enzyme that controls the activity of Src family tyrosine kinases by phosphorylating and inhibiting them. These kinases play key roles in cell growth, differentiation, and survival signalling pathways. Dysregulation of CSK can lead to abnormal cell signalling, contributing to cancer and other diseases. Studying CSK’s regulatory functions helps us understand cell signalling control and offers potential targets for therapy in diseases involving tyrosine kinase imbalances.

XDH, or Xanthine dehydrogenase, is an enzyme that plays a crucial role in purine metabolism, which involves the breakdown and recycling of purine nucleotides such as adenine and guanine. XDH catalyses the conversion of hypoxanthine to xanthine, and then xanthine to uric acid, the final product of purine degradation in humans. This process is essential for eliminating excess purines from the body, helping to regulate levels derived from both diet and cellular turnover.

SHLD1 (Shieldin Complex Subunit 1) is a protein that forms part of the shieldin complex, which plays a crucial role in DNA repair. It is involved in repairing double-strand breaks through non-homologous end joining, an essential process for maintaining genomic stability and preventing mutations.

SHLD1

BCO1 (Beta-Carotene Oxygenase 1) is an enzyme that plays a crucial role in converting beta-carotene into retinal, the active form of vitamin A. Vitamin A is vital for vision, immune function, and cell communication. The activity of BCO1 affects how efficiently dietary beta-carotene is converted into vitamin A, influencing overall vitamin A levels and related health outcomes. Variations in the BCO1 gene can affect an individual’s ability to process beta-carotene and their risk of vitamin A deficiency.

BCO1

GATA3 (GATA Binding Protein 3) is a transcription factor that regulates the development and differentiation of multiple cell types, including T cells and mammary gland cells. It is essential for proper immune function and the formation of breast tissue. Mutations in GATA3 can contribute to immunodeficiency and breast cancer.

GATA3

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

FSHR

B3GALNT1 (Beta-1,3-N-Acetylgalactosaminyltransferase 1) is an enzyme that plays a key role in glycosylation, a process essential for proper protein function. It aids in the production of specific glycan structures important for cell-to-cell adhesion and signalling. Mutations in B3GALNT1 can cause muscular dystrophy-dystroglycanopathy, a group of disorders that affect muscle function.

B3GALNT1

CHDH (Choline Dehydrogenase) is an important enzyme involved in choline metabolism, converting choline into betaine. This conversion supports the production of acetylcholine, a key neurotransmitter, and helps regulate homocysteine levels, which is important for cardiovascular health. CHDH activity influences choline availability, affecting liver function, brain development, and nervous system health. Studying CHDH can provide valuable insights into nutritional requirements and interventions for metabolic disorders.

CHDH

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

GBP3

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

FUCA1

ETS1 (ETS Proto-Oncogene 1, Transcription Factor): ETS1 is a key member of the ETS family of transcription factors that regulate gene expression. It plays important roles in controlling immune responses, cell growth, and development. ETS1 is involved in processes such as angiogenesis, lymphocyte formation, and tumour development, and has been linked to several cancers and autoimmune disorders.

ETS1

SHMT1 (Serine Hydroxymethyltransferase 1): SHMT1 is an enzyme that catalyses the conversion of serine and tetrahydrofolate into glycine and methylenetetrahydrofolate. This process is essential for nucleotide synthesis and methylation reactions, which support DNA replication and repair. SHMT1 plays a key role in cell growth and genetic stability, and its activity in folate metabolism is linked to cancer risk and neurological disorders.

SHMT1

B3GNTL1 (Beta-1,3-N-Acetylglucosaminyltransferase Like 1): B3GNTL1 is an enzyme involved in the biosynthesis of complex carbohydrates, specifically contributing to the formation of glycosaminoglycans, key components of the extracellular matrix. These enzymes play important roles in cell communication, signalling, and maintaining structural integrity. Although the full biological functions of B3GNTL1 are still being studied, disruptions in glycosaminoglycan synthesis can affect development and are linked to conditions such as cancer and congenital disorders.

B3GNTL1

ANGPTL4 (Angiopoietin-Like 4): ANGPTL4 is a multifunctional protein that plays key roles in regulating lipid metabolism, blood vessel formation (angiogenesis), and inflammation. It influences these processes by inhibiting lipoprotein lipase (LPL) activity, which increases plasma triglyceride levels, and by limiting endothelial cell migration and tube formation, affecting vascular growth and remodelling. Additionally, ANGPTL4 helps regulate inflammatory responses and tissue repair. Imbalances in ANGPTL4 function have been linked to metabolic conditions such as obesity, dyslipidaemia, and insulin resistance.

ANGPTL4

CHMP3 (Charged Multivesicular Body Protein 3): CHMP3 is a key component of the ESCRT-III complex (Endosomal Sorting Complex Required for Transport III). It plays a crucial role in the formation of multivesicular bodies and is involved in sorting ubiquitinated membrane proteins for degradation in lysosomes, helping regulate cellular protein turnover and membrane trafficking.

CHMP3

ESR2 (Oestrogen Receptor 2): ESR2 is a gene that encodes one of the two main oestrogen receptors in the body. It mediates the effects of oestrogen, a key hormone involved in reproductive functions as well as bone, cardiovascular, and neural health. ESR2 plays important roles in various physiological processes and is a target in hormone replacement therapies and certain cancer treatments.

ESR2

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

BACH2

ALOX5AP (Arachidonate 5-Lipoxygenase-Activating Protein): ALOX5AP is a gene that encodes a protein involved in activating the enzyme arachidonate 5-lipoxygenase (ALOX5). This enzyme plays a key role in metabolising arachidonic acid and producing leucotrienes, which are important inflammatory mediators. Variations in ALOX5AP have been linked to cardiovascular diseases and asthma.

ALOX5AP

ARL14EP (ADP-ribosylation factor-like protein 14E): ARL14EP is a protein that plays a key role in regulating intracellular vesicle trafficking and membrane dynamics. As part of the ARL protein family, it helps control the movement of vesicles within cells, affecting processes such as protein secretion, endocytosis, and organelle organisation. ARL14EP is also involved in cell signalling and cytoskeletal regulation, making it essential for overall cellular function. Altered ARL14EP activity or expression has been associated with various diseases, including neurodegenerative disorders, cancer, and metabolic conditions.

ARL14EP

BARHL2 (BarH-Like Homeobox 2): BARHL2 is a homeobox transcription factor that plays a key role in neural development. It is involved in the differentiation and specification of certain neuronal cell types during embryogenesis, helping to shape the formation of a functional nervous system.

BARHL2

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

CYP4F11

BCL11A (B-Cell CLL/Lymphoma 11A): BCL11A is a transcription factor essential for the development and function of blood cells. It plays a key role in regulating foetal haemoglobin levels and is a major focus in research on sickle cell disease and beta-thalassaemia. BCL11A is also involved in the progression of certain blood cancers.

BCL11A

GIPR (Glucose-Dependent Insulinotropic Polypeptide Receptor): GIPR is a gene that encodes the receptor for the hormone GIP, which helps stimulate insulin release after eating. This receptor plays a key role in regulating glucose metabolism and insulin secretion, supporting the body’s response to food intake.

GIPR

GC (Group-Specific Component, also known as Vitamin D Binding Protein): GC, also known as Vitamin D Binding Protein, is a protein that binds to and transports vitamin D and its metabolites in the bloodstream. It plays a crucial role in regulating calcium and phosphate balance, as well as modulating immune and inflammatory responses. Variations in GC can influence vitamin D levels and metabolism, impacting bone health and potentially altering the risk of autoimmune diseases.

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

RNF220

TCF19 (Transcription Factor 19): TCF19 is a gene that encodes a transcription factor involved in regulating the cell cycle. It helps control cell proliferation and may participate in the cellular response to DNA damage. Alterations in TCF19 function have been linked to cancer development, highlighting its importance in cell biology and oncology.

TCF19

GCNT1 (Glucosaminyl (N-Acetyl) Transferase 1): GCNT1 is a gene that encodes an enzyme involved in the biosynthesis of mucins, essential components of mucus. It plays a role in modifying glycoproteins, affecting cell signalling and immune function. Altered GCNT1 activity has been associated with conditions such as cystic fibrosis and certain cancers.

GCNT1

SH2B1 (SH2B Adaptor Protein 1): SH2B1 is a gene that encodes an adaptor protein involved in multiple intracellular signalling pathways, particularly those linked to insulin and leptin. It plays a key role in regulating energy balance, body weight, and glucose metabolism. Variations in SH2B1 have been associated with obesity and insulin resistance.

SH2B1

FCRL6 (Fc Receptor-Like 6): FCRL6 is a gene that encodes a protein expressed on specific T cells and natural killer (NK) cells, where it helps regulate immune responses. It may influence how these cells respond in the context of infection, autoimmune diseases, and cancer. Research into FCRL6 is investigating its potential as a target for therapies aimed at enhancing immune regulation.

FCRL6

APOC4 (Apolipoprotein C-IV): APOC4 is a protein belonging to the apolipoprotein family that plays a key role in lipid metabolism and transport. It helps regulate triglyceride-rich lipoprotein particles and influences how lipoproteins interact with their receptors and lipid transfer proteins. APOC4 is found in several plasma lipoprotein fractions, including very low-density lipoproteins (VLDL) and high-density lipoproteins (HDL). Its involvement in lipid metabolism links it to cardiovascular health, with dysregulation or genetic variations potentially affecting lipid levels and contributing to atherosclerosis, coronary artery disease, and other lipid disorders.

APOC4

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

BRK1

FMO4 (Flavin Containing Monooxygenase 4): FMO4 is an enzyme that belongs to the flavin-containing monooxygenase family. It plays a crucial role in the detoxification process by catalysing the oxidation of various compounds, including drugs, xenobiotics, and endogenous molecules. Mainly expressed in the liver, FMO4 helps regulate the metabolism and elimination of substances, which can affect drug efficacy and toxicity. Ongoing research investigates its importance in metabolic pathways and its potential impacts on pharmacology and toxicology.

FMO4

LAX1 (Lymphocyte Transmembrane Adaptor 1): LAX1 is a gene that encodes a transmembrane protein predominantly found in lymphocytes. It contributes to immune cell signalling and activation, playing a role in regulating the development and function of lymphocytes.

LAX1

FAR1 (Fatty Acyl-CoA Reductase 1): FAR1 is a gene that encodes an enzyme responsible for converting fatty acyl-CoA into fatty alcohols, a crucial step in the production of wax esters and other complex lipids. These lipids contribute to the structure of cell membranes and help protect cells from environmental stress. FAR1’s role in lipid metabolism is associated with skin barrier function, lipid storage disorders, and potential uses in biofuel and industrial production.

FAR1

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

EPB41L4A

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

MYRIP

NCK2 (NCK Adaptor Protein 2): NCK2 is a protein that links receptor tyrosine kinases to signalling pathways regulating cell growth, movement, and cytoskeletal organisation. It participates in multiple signalling networks that enable cells to respond to external stimuli. Dysregulation of NCK2 has been associated with cancer progression and metastasis, highlighting its role in cell signalling and tumour development.

NCK2

NSMAF (Neutral Sphingomyelinase Activation-Associated Factor): NSMAF is a gene that encodes a protein involved in regulating sphingomyelinase, an enzyme essential for sphingolipid metabolism. It contributes to cell signalling, particularly in stress responses and the initiation of apoptosis. NSMAF is of interest for its potential roles in inflammation, neurodegeneration, and other disease-related processes.

NSMAF

GLRB (Glycine Receptor Beta Subunit): GLRB is a gene that encodes a component of the glycine receptor, a chloride channel essential for inhibitory neurotransmission in the spinal cord and brainstem. This receptor plays a key role in regulating motor and sensory functions, and mutations in GLRB can lead to neurological conditions such as hyperekplexia, characterised by an exaggerated startle reflex.

GLRB

MST1 (Macrophage Stimulating 1): MST1 is a gene that encodes a protein involved in activating macrophages, essential cells of the immune system. It contributes to inflammation and immune defence and has been linked to the development of autoimmune disorders and certain cancers.

MST1

MAN1A2 (Mannosidase Alpha Class 1A Member 2): MAN1A2 is an enzyme involved in the modification of N-linked oligosaccharides during glycoprotein biosynthesis. It plays a role in protein processing and quality control within the endoplasmic reticulum, aiding in correct protein folding and maintaining cellular homeostasis.

MAN1A2

AGA (Aspartylglucosaminidase): AGA is an enzyme crucial for breaking down glycoproteins within cells. A deficiency in AGA results in aspartylglucosaminuria, a lysosomal storage disorder characterised by the accumulation of glycoprotein-derived oligosaccharides, leading to developmental delays and other symptoms.

BIN1 (Bridging Integrator 1): BIN1 is a protein that plays a crucial role in regulating cellular membrane dynamics. It is involved in key processes such as endocytosis and shaping membrane curvature. BIN1 acts as a bridging factor, aiding in the formation of membrane tubules that are essential for various cellular functions.

BIN1

SIK2 (Salt-Inducible Kinase 2): SIK2 is a kinase belonging to the AMPK family that helps regulate the body's energy balance. It affects lipid and glucose metabolism and has been associated with conditions such as obesity, diabetes, and metabolic changes related to cancer.

SIK2

FGF5 (Fibroblast Growth Factor 5): FGF5 is a gene that encodes a protein from the fibroblast growth factor family, which is involved in cell growth, differentiation and signalling. FGF5 regulates hair growth cycles and influences hair length across species. It also contributes to tissue development and repair, including roles in neural development. Abnormal FGF5 activity has been linked to certain diseases, including cancer.

FGF5

ISCA2 (Iron-Sulfur Cluster Assembly 2): ISCA2 is a protein involved in the formation of iron-sulphur clusters, which are essential for proper mitochondrial function and cellular energy production. ISCA2 plays a key role in maintaining energy metabolism within cells, and mutations in this gene can lead to mitochondrial disorders with diverse clinical symptoms.

ISCA2

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

ZCCHC7

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

SORCS1

FBXO8 (F-Box Protein 8): FBXO8 is a member of the F-box protein family, which plays a key role in the ubiquitin-proteasome system — the body’s way of regulating protein degradation and turnover. FBXO8 functions by helping to identify specific proteins for breakdown, thereby influencing important cellular activities such as the cell cycle, signal transduction, and immune response. While its exact targets and roles are still under investigation, FBXO8’s involvement in protein degradation highlights its importance in maintaining cellular balance and its potential link to diseases involving protein misfolding or aggregation, such as neurodegenerative disorders.

FBXO8

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

ISL1

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

CCDC167

IFIH1 (Interferon Induced With Helicase C Domain 1): IFIH1, also known as MDA5, is a gene that encodes a protein functioning as an intracellular sensor for viral RNA. It plays a crucial role in innate immunity by detecting viral replication and initiating immune responses. Variations in IFIH1 have been associated with autoimmune diseases such as type 1 diabetes and systemic lupus erythematosus.

IFIH1

ZFP57 (ZFP57 Zinc Finger Protein): ZFP57 is a KRAB-zinc finger protein that plays a crucial role in regulating genomic imprinting and DNA methylation. It is essential for maintaining the epigenetic stability of imprinted genes during early embryonic development. Mutations in ZFP57 are linked to transient neonatal diabetes and other imprinting disorders, underlining its importance in epigenetic regulation and developmental processes.

ZFP57

CCBE1 (Collagen and Calcium Binding EGF Domains 1): CCBE1 is a gene essential for lymphangiogenesis, the formation of lymphatic vessels. It regulates vascular endothelial growth factor C (VEGF-C), a key factor in the development of the lymphatic system. Mutations in CCBE1 can cause Hennekam syndrome, a rare disorder characterised by lymphoedema, lymphangiectasia, and intellectual disability.

CCBE1

IRX2 (Iroquois Homeobox 2): IRX2 is a transcription factor that belongs to the Iroquois homeobox gene family. It plays a crucial role in embryonic development by regulating the patterning and formation of tissues such as the heart and nervous system. Dysregulation of IRX2 has been associated with developmental disorders and may also contribute to cancer.

IRX2

NBPF3 (Neuroblastoma Breakpoint Family, Member 3): NBPF3 is a gene belonging to the neuroblastoma breakpoint family, with functions that are not yet fully understood. It may contribute to neurological development or function and could be associated with the development of neuroblastoma, a childhood cancer.

NBPF3

KNDC1 (Kinase Non-Catalytic C-Lobe Domain Containing 1): KNDC1 is a gene that encodes a protein containing kinase-like domains but does not possess enzymatic kinase activity. Although its precise functions are not yet fully understood, KNDC1 is thought to be involved in various cellular processes. Current research seeks to clarify its role in cell biology and function.

KNDC1

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

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

SIRT1

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

AEBP2

HUNK (Hormonally Up-Regulated Neu-Associated Kinase): HUNK is a gene that encodes a protein kinase regulated by hormonal signals. It has been associated with breast cancer, where overexpression may promote tumour growth and metastasis. By participating in intracellular signalling pathways influenced by hormones such as oestrogen, HUNK plays a significant role in cancer biology and is being explored as a potential therapeutic target.

HUNK

NDUFA11 (NADH:Ubiquinone Oxidoreductase Subunit A11): NDUFA11 is a gene that encodes a protein subunit of mitochondrial complex I, the first and largest enzyme complex in the electron transport chain. It supports the assembly, stability and electron transfer of complex I from NADH to ubiquinone, aiding in the generation of the proton gradient necessary for ATP production via oxidative phosphorylation. Mutations in NDUFA11 can impair energy metabolism and contribute to mitochondrial diseases and related disorders.

NDUFA11

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

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

KCNK2

ASIP (Agouti Signalling Protein): ASIP is a protein that influences pigmentation by regulating melanin production in the skin and hair. It works by blocking melanocortin receptors, which helps determine the type and distribution of melanin. Variations in ASIP expression affect pigmentation patterns, skin cancer risk, and metabolic regulation, underscoring its important roles in both colouration and metabolic health.

ASIP

GNB3: GNB3 is a gene that encodes a subunit of G proteins, which help transmit signals from outside the cell to the inside. A well-known variant (C825T) has been linked to traits such as hypertension and obesity, making GNB3 important in studying disease risk and individual responses to medications.

GNB3

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

UPB1

SH3YL1 (SH3 And SYLF Domain Containing 1): SH3YL1 is a gene that encodes a protein with SH3 and SYLF domains, suggesting a role in protein-protein interactions. Although its exact functions are still being researched, SH3YL1 is believed to be involved in cellular signalling pathways and the regulation of membrane dynamics.

SH3YL1

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

FAM171A1

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