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GetTested’s DNA Skin & Beauty test analyses genes that influence your skin’s health and provides you with personalized recommendations based on your genetics. The test covers a range of factors from skin aging to specific skin conditions like age spots and sensitivity, to your predisposition to various skin problems such as acne and rosacea.

GetTested’s DNA Skin & Beauty test analyses genes that influence your skin’s health and provides you with personalized recommendations based on your genetics. The test covers a range of factors from skin aging to specific skin conditions like age spots and sensitivity, to your predisposition to various skin problems such as acne and rosacea.

DNA Skin & Beauty Test

Do you often find yourself feeling tired and drained, even after a full night’s sleep? Fatigue can take a toll on your daily life and overall well-being. But what if you could uncover the genetic factors contributing to your low energy levels? GetTested’s DNA Fatigue is a comprehensive analysis of 240 carefully selected genes that can shed light on the underlying causes of your fatigue.

Do you often find yourself feeling tired and drained, even after a full night’s sleep? Fatigue can take a toll on your daily life and overall well-being. But what if you could uncover the genetic factors contributing to your low energy levels? GetTested’s DNA Fatigue is a comprehensive analysis of 240 carefully selected genes that can shed light on the underlying causes of your fatigue.

DNA Fatigue Test

GetTested’s DNA Brain Health test provides a detailed genetic analysis of 288 genes to understand factors that affect your mental health. This at-home test examines specific genes related to memory, stress management, anxiety susceptibility, and mood swings, offering a comprehensive insight into how your unique genetic makeup impacts your mental well-being.

GetTested’s DNA Brain Health test provides a detailed genetic analysis of 288 genes to understand factors that affect your mental health. This at-home test examines specific genes related to memory, stress management, anxiety susceptibility, and mood swings, offering a comprehensive insight into how your unique genetic makeup impacts your mental well-being.

DNA Brain Health Test

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

KCNK9

HLA-A (Human Leukocyte Antigen A): HLA-A is a gene that encodes an MHC class I protein responsible for presenting peptide antigens to CD8⁺ T cells. It plays a key role in immune defense against pathogens and tumour cells. Variations in HLA-A can affect susceptibility to infections, autoimmune diseases, and transplant rejection, making it important in immune regulation and a potential target for immunotherapy.

HLA-A

FOXQ1 (Forkhead Box Q1): FOXQ1 is a member of the forkhead box family of transcription factors that regulate gene expression related to cell growth, proliferation, and differentiation. FOXQ1 plays a key role in the development and progression of various cancers, particularly by influencing the epithelial-mesenchymal transition process.

FOXQ1

KATNIP (Katanin Interacting Protein): KATNIP is a gene that encodes a protein involved in regulating the katanin complex, which is responsible for severing microtubules. Through this interaction, KATNIP may influence microtubule dynamics, impacting cell division, movement, and intracellular transport.

KATNIP

IKZF2 (IKAROS Family Zinc Finger 2): IKZF2, also known as Helios, is a transcription factor crucial for T-cell development and differentiation. It aids in maintaining the identity of regulatory T cells and promotes immune tolerance. Dysregulation of IKZF2 has been associated with immune disorders and is under investigation for its potential role in cancer immunotherapy.

IKZF2

KRT73 (Keratin 73): KRT73 is a gene that encodes a type of keratin protein crucial for the structural integrity of hair and nails. Keratin 73 plays a vital role in the formation of the hair shaft. Alterations or mutations in this gene can impact hair texture and strength, leading to various hair disorders. Research on KRT73 aids in advancing the understanding of hair biology and developing potential therapies for hair-related conditions.

KRT73

COL27A1 (Collagen Type XXVII Alpha 1 Chain): COL27A1 is a gene that encodes a collagen protein essential for the structure and function of connective tissues. This type of collagen plays a crucial role in cartilage formation and skeletal development. Mutations in COL27A1 have been associated with disorders affecting bone and cartilage, making it a key focus in research on musculoskeletal health and potential therapeutic targets.

COL27A1

PPFIA2 (PTPRF Interacting Protein Alpha 2): PPFIA2 is a protein from the liprin family that plays a crucial role in cell communication and adhesion. It is involved in regulating the formation and maintenance of synapses, particularly within the central nervous system. PPFIA2 affects the development and plasticity of neural networks, and alterations in its function may be associated with neurological disorders.

PPFIA2

KAT6B (Lysine Acetyltransferase 6B): KAT6B is a gene that codes for a histone acetyltransferase involved in chromatin remodeling and gene regulation. It plays crucial roles in development, cell cycle regulation, and DNA repair. Mutations in KAT6B are associated with rare genetic disorders characterised by skeletal abnormalities and developmental delays, including Genitopatellar and Ohdo syndromes.

KAT6B

EPHB2 (Ephrin Type-B Receptor 2): EPHB2 is a receptor tyrosine kinase that plays a crucial role in cell-to-cell communication and tissue organisation. Through its interaction with ephrin ligands, EPHB2 regulates vital processes such as cell migration, adhesion, and axon guidance during development and throughout life. It is essential for maintaining the structure and function of tissues, particularly in the nervous system and epithelial layers. Dysregulation of EPHB2 signalling has been associated with conditions such as cancer progression, neurodevelopmental disorders, and tissue malformations.

EPHB2

HDHD2 (Haloacid Dehalogenase-Like Hydrolase Domain Containing 2): HDHD2 is a gene encoding an enzyme from the haloacid dehalogenase-like hydrolase family. Although its precise biological roles are not completely understood, HDHD2 is thought to be involved in cellular metabolism and signaling pathways.

HDHD2

SLC5A6 (Solute Carrier Family 5 Member 6): SLC5A6 is a gene that encodes the sodium-dependent vitamin transporter, crucial for the absorption of biotin (a B-vitamin) and possibly other water-soluble vitamins. This transporter plays a vital role in maintaining adequate vitamin levels in the body, with deficiencies potentially leading to issues such as skin problems, hair loss, and neurological symptoms.

SLC5A6

AGPAT5 (1-Acylglycerol-3-Phosphate O-Acyltransferase 5): AGPAT5 is an enzyme crucial for the biosynthesis of phospholipids, which are vital components of cell membranes. It facilitates the conversion of lysophosphatidic acid into phosphatidic acid, an essential step in the production of various phospholipids. Dysregulation of AGPAT5 can impair lipid metabolism and is linked to conditions such as obesity and lipodystrophy.

AGPAT5

SRSF6 (Serine and Arginine Rich Splicing Factor 6): SRSF6 is a gene that encodes a protein involved in mRNA splicing, a crucial process for generating diverse proteins from the genome. It plays a role in regulating alternative splicing, thereby affecting gene expression and protein function. Mutations in SRSF6 have been linked to skin and mucosal disorders.

SRSF6

PDE4C (Phosphodiesterase 4C): PDE4C is a gene that encodes the enzyme phosphodiesterase 4C, which helps regulate intracellular levels of cAMP, a key molecule in cellular signalling. This enzyme plays an important role in cell communication and is a target for medications used to treat respiratory conditions like asthma and chronic obstructive pulmonary disease (COPD).

PDE4C

ZNF616 is a gene that encodes a protein belonging to the zinc finger family, characterized by its DNA-binding zinc finger domains. Located in the cell nucleus, ZNF616 functions as a transcriptional regulator by binding to specific DNA sequences and influencing gene expression. It can modulate the activity of target genes by interacting with promoter or enhancer regions, either activating or repressing transcription.

ZNF616

SIGLEC1 (Sialic Acid Binding Ig-Like Lectin 1): SIGLEC1 is a protein, also known as sialoadhesin or CD169, belonging to the family of I-type lectins. It recognises sialic acid residues on cell surfaces and is primarily expressed on macrophages. SIGLEC1 plays important roles in cell-cell interactions, binding to sialylated pathogens, and modulating immune responses. It is involved in immune surveillance and has been linked to the development of infectious diseases and some cancers.

SIGLEC

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

GNMT

HLA-DMA (Major Histocompatibility Complex, Class II, DM Alpha): HLA-DMA is a protein involved in the immune system’s antigen presentation pathway. It plays a critical role in regulating peptide loading onto MHC class II molecules, enabling immune cells to effectively present antigens to T cells. This function is essential for initiating immune responses against pathogens and maintaining immune tolerance. Changes in HLA-DMA activity can impact immune function and are linked to several autoimmune conditions, highlighting its importance in immune regulation and disease risk.

HLA-DMA

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

SLC7A11

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

G2E3

CBLL1 (Cbl Proto-Oncogene Like 1): CBLL1 is a gene that encodes a protein belonging to the Cbl family, which is involved in signal transduction and regulation of cellular functions. This protein participates in the ubiquitin-proteasome pathway, aiding in the regulation of protein degradation and turnover within the cell.

CBLL1

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

CACNB2

TNIP1 (TNFAIP3 Interacting Protein 1): TNIP1 is a protein that works closely with TNFAIP3 to regulate immune responses by inhibiting NF-kB activation. It plays a key role in maintaining immune balance and preventing autoimmunity. Dysregulation of TNIP1 has been associated with several autoimmune diseases, emphasizing its importance in immune system regulation. Current research explores TNIP1’s potential in understanding and treating autoimmune conditions.

TNIP1

CPXM2 (Carboxypeptidase X, M14 Family Member 2): is a gene that encodes an enzyme responsible for modifying proteins by cleaving terminal amino acids. This mechanism plays a vital role in various biological functions, including protein maturation and degradation. The enzyme is also significant in developmental processes and neural function.

CPXM2

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

GCKR

CCDC138 (Coiled-Coil Domain Containing 138): CCDC138 is a protein that is not well characterized yet but is potentially linked to cellular structure due to its coiled-coil domain. These domains often contribute to protein-protein interactions and cytoskeletal organization. Further research is necessary to understand its specific functions and its significance to health and disease.

CCDC138

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

CAMK1D

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

UGT1A6

SHQ1 (SHQ1, H/ACA Ribonucleoprotein Assembly Factor): SHQ1 is a gene encoding a protein crucial for the assembly of H/ACA ribonucleoproteins (RNPs). These RNPs participate in RNA processing and modification, including the maturation of rRNA, snRNA, and the stabilization of the telomerase RNA component (TERC). SHQ1 plays a vital role in the biogenesis of H/ACA RNPs, which are essential for proper cellular function and genomic stability. Disruptions in SHQ1 can impact RNA processing and lead to cellular dysfunction.

SHQ1

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

SLC44A2

GNG11 (G Protein Subunit Gamma 11): GNG11 (G Protein Subunit Gamma 11) is a gamma subunit of heterotrimeric G proteins, which are key players in intracellular signalling pathways triggered by G protein-coupled receptors (GPCRs). GNG11 helps modulate signal transduction across cell membranes, influencing various physiological processes such as sensory perception, immune response, and cell growth. Its function is essential for transmitting signals from outside the cell to the interior, driving appropriate cellular responses.

GNG11

PAFAH1B2 (Platelet-Activating Factor Acetylhydrolase 1B, Subunit 2): PAFAH1B2 is a gene involved in the metabolism of platelet-activating factor, a lipid mediator in inflammation. It plays a role in modulating inflammatory responses and may influence cardiovascular health and immune system function.

PAFAH1B2

PRLR (Prolactin Receptor): PRLR is a receptor that binds to the hormone prolactin, which plays a role in milk production, reproductive functions, and immune regulation. When prolactin binds to PRLR, it triggers signaling pathways that control cell growth, development, and differentiation. Abnormal PRLR signaling has been connected to breast and other cancers, highlighting its importance in cell proliferation and its potential as a target for therapy.

PRLR

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

MOXD1

APOH (Apolipoprotein H): APOH is a multifunctional plasma protein, also known as beta-2-glycoprotein I, that plays a vital role in lipid metabolism and hemostasis. It is a key factor in antiphospholipid antibody syndrome (APS), where it helps regulate the coagulation cascade and prevent thrombosis. APOH interacts with lipoproteins, phospholipids, and coagulation factors, contributing to immune modulation and the clearance of apoptotic cells. In addition to its role in blood clotting, APOH has anti-inflammatory effects and supports endothelial function and vascular health. Dysregulation of APOH is linked to various thrombotic and vascular disorders.

APOH

CARMIL1 (Capping Protein Regulator and Myosin 1 Linker 1): CARMIL1 is a gene that codes for a protein involved in the regulation of actin dynamics, a crucial component of the cellular cytoskeleton. It plays a significant role in cell movement, structure, and signalling. Alterations or disruptions in CARMIL1 can affect cell motility and have been linked to immune system disorders and certain types of cancer.

CARMIL1

TLR1 (Toll-Like Receptor 1): TLR1 is a gene that encodes a protein belonging to the toll-like receptor family, which plays a key role in the innate immune system. It recognises pathogen-associated molecular patterns and helps trigger immune responses. Variations in TLR1 may affect susceptibility to infectious diseases.

TLR1

FHOD3 (Formin Homology 2 Domain Containing 3): FHOD3 is a protein belonging to the formin family, which plays a key role in organising and regulating the actin cytoskeleton. It is especially important in cardiac muscle and other tissues, where it supports the assembly of actin filaments that affect cell shape, adhesion, and movement. FHOD3 is vital for processes such as cell division, migration, and muscle contraction, contributing to cardiovascular and skeletal system function. Its regulatory role involves dynamic remodelling of the actin cytoskeleton, essential for heart development and performance.

FHOD3

ZNF704 (Zinc Finger Protein 704): ZNF704 is a member of the zinc finger protein family, known for their DNA-binding motifs and role in gene regulation. Although its specific functions are not completely understood, ZNF704, like other zinc finger proteins, is likely involved in transcriptional regulation affecting various cellular processes. It may contribute to development and disease mechanisms, particularly in situations where controlling gene expression is crucial.

ZNF704

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

MTDH

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

NOX4

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

CHRNA4

GLYCTK (Glycerate Kinase): GLYCTK is an enzyme that plays a crucial role in the metabolism of glycerate, a compound involved in the glycolysis and gluconeogenesis pathways. Proper functioning of GLYCTK is vital for energy metabolism, and malfunctions in this enzyme have been associated with D-glyceric aciduria, a rare metabolic disorder.

GLYCTK

HLCS (Holocarboxylase Synthetase): HLCS is an enzyme essential for the proper functioning of carboxylase enzymes, which play key roles in protein, carbohydrate, and lipid metabolism. Mutations in HLCS can cause holocarboxylase synthetase deficiency, a rare metabolic disorder characterised by multiple carboxylase deficiencies, leading to issues with skin, hair, immune function, and developmental delays.

HLCS

AP3B2 (Adaptor-Related Protein Complex 3 Subunit Beta 2): AP3B2 is a subunit of the Adaptor-Related Protein Complex 3 (AP-3), which is involved in intracellular vesicle trafficking. It plays a crucial role in sorting cargo proteins to lysosomes and associated organelles. Mutations in AP3B2 are linked to Hermansky-Pudlak syndrome, a disorder characterized by defects in pigmentation and platelet function.

AP3B2

HASPIN (Histone H3 Associated Protein Kinase): HASPIN is a kinase that phosphorylates histone H3, playing a crucial role in regulating chromosome condensation and segregation during mitosis. It is vital for maintaining genomic stability and ensuring accurate cell division. Dysregulation of HASPIN activity can lead to chromosomal abnormalities and is being explored for its potential role in cancer development as well as a target for cancer treatments.

HASPIN

OTOP1 (Otopetrin 1): OTOP1 is a gene involved in the functioning of the vestibular system and is essential for maintaining body balance and spatial orientation. It plays a key role in the formation of otoconia, tiny calcium carbonate crystals in the inner ear that are critical for sensing gravity and linear acceleration.

OTOP1

HLA-C (Human Leukocyte Antigen C): HLA-C is a gene that encodes a protein belonging to the MHC class I family, which plays a crucial role in the immune system by presenting peptide antigens to CD8+ T cells. It also helps regulate natural killer (NK) cell activity through interactions with KIR receptors. The expression and diversity of HLA-C influence the effectiveness of immune responses, affecting susceptibility to infections, autoimmune diseases, and transplantation outcomes.

HLA-C

FARP2 (FERM, ARH/RhoGEF, And Pleckstrin Domain Protein 2): FARP2 is a signalling protein that plays a key role in neuronal development and synaptic plasticity. It regulates dendritic spine formation and actin cytoskeleton remodelling by acting as a guanine nucleotide exchange factor for small GTPases. Through these pathways, FARP2 influences neuronal connectivity and function. Changes in FARP2 expression or activity are linked to neurological disorders, underscoring its importance in brain development and synaptic regulation.

FARP2

RESF1 (Respiratory Factor 1): RESF1 is a gene involved in mitochondrial function and respiratory chain activity. It plays a vital role in energy production within cells and supports the maintenance of mitochondrial integrity and function.

RESF1

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

LAMA5

SLC45A2 (Solute Carrier Family 45 Member 2): SLC45A2 is a protein involved in melanin production, acting as a transporter of tyrosine, a key precursor in the melanin biosynthesis pathway. Variants of SLC45A2 contribute to human pigmentation differences, influencing skin, hair, and eye colour. Mutations in this gene can cause oculocutaneous albinism type 4, characterised by reduced pigmentation and visual challenges. The function of SLC45A2 in pigmentation plays a role not only in physical appearance but also in protection against UV radiation and regulation of vitamin D synthesis.

SLC45A2

CENPW (Centromere Protein W): CENPW is a gene that plays a crucial role in chromosome segregation during cell division, essential for the formation and function of the centromere. It is vital for accurate cell division, and its dysfunction can lead to chromosomal instability, a common characteristic of many cancers.

CENPW

ERBB4 (Erb-B2 Receptor Tyrosine Kinase 4): ERBB4 is a member of the epidermal growth factor receptor (EGFR) family that functions as a key regulator in multiple cellular processes. This transmembrane receptor tyrosine kinase plays a crucial role in signalling pathways that control cell proliferation, differentiation, and survival. Beyond these cellular functions, ERBB4 also influences organ development, synaptic plasticity, and cardiac function. Activation of ERBB4 triggers downstream signalling cascades that impact gene expression and cellular behaviour, contributing to tissue homeostasis and development. Dysregulation of ERBB4 has been linked to various diseases, including cancer, neurological disorders, and cardiac abnormalities.

ERBB4

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

IREB2

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

HIVEP2

NOTCH1 (Notch Receptor 1): NOTCH1 is a crucial component of the Notch signalling pathway, which plays a significant role in cell fate determination, stem cell maintenance, and differentiation during both embryonic and adult tissue development. Dysregulation of NOTCH1 signalling is associated with various disorders, including several cancers such as T-cell acute lymphoblastic leukaemia, as well as developmental abnormalities. Its wide-ranging influence on cell proliferation and differentiation makes NOTCH1 a key focus in developmental biology and oncology research.

NOTCH1

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

CANT1

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

PKNOX1

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

BLMH

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

CETP

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

FOXA2

LGSN (Lengsin): LGSN is a lens-specific protein that helps maintain and regenerate the lens of the eye. It plays a crucial role in preserving the lens's transparency and refractive properties. Mutations in LGSN are associated with cataract development, underscoring its significance in eye health and lens formation.

LGSN

PRR5L (Proline Rich 5 Like): PRR5L is a gene associated with the mechanistic target of rapamycin (mTOR) complex, which regulates cell growth, proliferation, and survival in response to nutrients and environmental signals. PRR5L influences mTOR complex 2 (mTORC2) activity, affecting insulin signaling, cytoskeletal organisation, and cell survival. Dysregulation of mTOR pathways involving PRR5L is linked to diseases such as cancer and metabolic disorders.

PRR5L

PRDM8 (PR/SET Domain 8): PRDM8 is a transcription factor involved in neurodevelopment, especially in neuron differentiation and function. It contributes to the development of the central nervous system and has been associated with neural disorders.

PRDM8

AOC1 (Amine Oxidase, Copper Containing 1): AOC1 is an enzyme involved in the metabolism of histamine and polyamines. It plays a key role in regulating histamine levels and is important for allergic responses, gastrointestinal function, and immune system regulation.

AOC1

PPARGC1B (Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-Beta): PPARGC1B is a coactivator of the PPARγ receptor that plays a crucial role in energy metabolism. It assists in regulating genes involved in energy production, including mitochondrial biogenesis and fatty acid metabolism. This gene is significant in metabolic processes and has been linked to conditions such as obesity and diabetes.

PPARGC1B

ADAMTS16 (ADAM Metallopeptidase with Thrombospondin Type 1 Motif, 16): ADAMTS16 is an enzyme involved in breaking down extracellular matrix components. It plays a role in tissue remodeling and development. Dysregulation of ADAMTS16 has been associated with conditions such as kidney and cardiovascular diseases, and it may also impact fertility.

ADAMTS16

STMN4 (Stathmin-Like 4): STMN4 is a gene that encodes a protein involved in the dynamics and regulation of microtubules. It plays a role in organizing the cytoskeleton and may impact key cellular processes such as cell division and intracellular transport.

STMN4

FUT5 (Fucosyltransferase 5): FUT5 is an enzyme that plays a role in fucose metabolism, responsible for attaching fucose to glycans. These glycans are crucial for cell-to-cell interaction and communication. Alterations in FUT5 activity can affect immune responses and have been researched in relation to cancer.

FUT5

TNP1, or Transition Protein 1, is a protein primarily found in the nuclei of developing spermatids — the immature male germ cells — during spermiogenesis, the final stage of spermatogenesis where round spermatids mature into spermatozoa. TNP1 belongs to a family of small, highly basic transition proteins involved in chromatin remodeling during this process. Its main function is to facilitate the replacement of histones with protamines, which are specialized proteins that tightly compact DNA within the sperm nucleus.

TNP1

Gluten Sensitivity (Non-Celiac): Gluten Sensitivity is a condition in which individuals show symptoms similar to celiac disease after consuming gluten, but without the autoimmune damage to the intestines that is typical of celiac disease. While the exact cause remains unknown, it is thought to involve an innate immune response to gluten in people who are genetically predisposed.

Gluten Sensitivity

USP25 (Ubiquitin Specific Peptidase 25): USP25 is a gene that encodes an enzyme involved in the ubiquitin-proteasome pathway, which removes ubiquitin from proteins to regulate their degradation. It plays a role in various cellular processes such as signal transduction and stress response. Changes in USP25 have been linked to immune system dysregulation and may contribute to cancer development.

USP25

GPM6A (Glycoprotein M6A): GPM6A is a gene that encodes a glycoprotein predominantly expressed in the nervous system. It plays a vital role in neurite outgrowth and the formation of neuronal networks, as well as in the development and maintenance of the myelin sheath, which is crucial for efficient nerve signal transmission. GPM6A is associated with neurological disorders such as schizophrenia and bipolar disorder, owing to its involvement in neuronal plasticity and myelination. Alterations in GPM6A expression or function may impact synaptic connectivity and brain function, potentially contributing to these neuropsychiatric conditions.

GPM6A

SIDT2 (SID1 Transmembrane Family Member 2): SIDT2 is a gene that encodes a protein involved in the cellular uptake of RNA molecules, playing a role in RNA interference (RNAi) mechanisms. It is important in the study of gene regulation and has potential implications for RNA-based therapeutics. SIDT2’s function in RNA transport is crucial for understanding how cells regulate gene expression and respond to external RNA molecules.

SIDT2

FAM216B (Family With Sequence Similarity 216 Member B): FAM216B is a gene about which limited information is available. Genes in the FAM216 family are believed to be involved in various cellular processes, but the precise function and role of FAM216B in human health and disease are still largely undefined.

FAM216B

CDK6 (Cyclin-Dependent Kinase 6): CDK6 is a protein that, when combined with D-type cyclins, plays a key role in regulating the cell cycle, especially the transition from the G1 to S phase. It is essential for cell proliferation and differentiation. Dysregulation of CDK6 has been associated with various cancers, making it an important target for cancer therapies, particularly in tumors with CDK6 overexpression or abnormal activity.

CDK6

ZGRF1, also known as Zinc finger GRF-type containing 1, is a protein characterised by the presence of zinc finger domains — common motifs involved in binding nucleic acids and mediating protein-protein interactions. Located primarily in the cell nucleus, ZGRF1 is believed to function as a transcription factor or regulator of gene expression. Although the precise roles of ZGRF1 are still under study, zinc finger proteins generally play key roles in various cellular processes such as gene transcription, RNA processing, and chromatin remodelling. These proteins can act as transcriptional activators or repressors by binding to specific DNA sequences.

ZGRF1

TPO (Thyroid Peroxidase) is a gene that encodes an enzyme crucial for the synthesis of thyroid hormones. This enzyme facilitates the iodination and coupling of hormone precursors, resulting in the production of thyroid hormones (T3 and T4). Dysfunction of TPO can lead to thyroid disorders.

AKT3, also known as Protein Kinase B (PKB) gamma, is a serine/threonine protein kinase that plays a key role in regulating several cellular processes — including cell survival, proliferation, metabolism, and growth. As a member of the AKT kinase family (which includes AKT1 and AKT2), AKT3 is primarily involved in controlling cell survival and apoptosis. It becomes activated in response to growth factors, cytokines, and other extracellular signals that promote cell growth and survival. Once activated, AKT3 phosphorylates downstream targets like BAD and caspase-9, which are important in the regulation of apoptosis.

AKT3

SHC1 (SHC Adaptor Protein 1): SHC1 is a protein that plays a crucial role in cellular signalling by functioning as an adaptor in pathways that regulate cell growth, differentiation, and survival. It facilitates the activation of the Ras/MAPK signalling pathway, impacting how cells respond to growth factors and cytokines. Dysregulation of SHC1 has been associated with the development of various cancers and cardiovascular diseases, highlighting its significant role in cell signalling and disease progression.

SHC1

ZNF804A (Zinc Finger Protein 804A): ZNF804A is a zinc finger protein associated with psychiatric disorders, notably schizophrenia and bipolar disorder. It is thought to be involved in brain development and synaptic plasticity. Variations in ZNF804A have been correlated with alterations in brain structure and function, making it a significant focus in neuropsychiatric research and the formulation of targeted treatments.

ZNF804A

VCAN (Versican): VCAN is a gene that encodes versican, a large proteoglycan present in the extracellular matrix of tissues. Versican is involved in cell adhesion, migration, and tissue development. It helps maintain tissue structure and may play a role in processes such as wound healing and embryonic development.

VCAN

TNXB (Tenascin-XB) is a member of the tenascin family of extracellular matrix proteins and plays a key role in tissue development, organisation, and maintenance. It is mainly found in connective tissues, contributing to the structural integrity and elasticity of the extracellular matrix (ECM). TNXB supports cell adhesion, migration, and proliferation, impacting processes like wound healing, tissue remodelling, and organ formation. Its expression is especially high in skin, tendons, and blood vessels, where it helps regulate the mechanical strength and resilience of these tissues.

TNXB

PEAK1 (Pseudopodium-Enriched Atypical Kinase 1): PEAK1 is a gene involved in cell signalling and cytoskeletal dynamics. It plays an important role in cell migration, adhesion, and invasion. Dysregulation of PEAK1 has been linked to cancer progression and metastasis, as it promotes tumour cell mobility and invasion into surrounding tissues.

PEAK1

GCSAML (Germinal Center-Associated Signaling And Motility-Like): GCSAML is a gene that is less well characterized but is thought to play a role in immune cell signaling and motility, especially in germinal center B cells. It may be important for the development of immune responses and the regulation of B cell activity.

GCSAML

CHRM3 (Cholinergic Receptor Muscarinic 3): CHRM3 is a receptor for acetylcholine (ACh) that plays a key role in various physiological functions, including smooth muscle contraction and glandular secretion. Dysregulation of CHRM3 is associated with conditions such as asthma and overactive bladder syndrome.

CHRM3

NRBF2 (Nuclear Receptor Binding Factor 2): NRBF2 is a protein involved in autophagy, a cellular process that breaks down and recycles damaged or unnecessary components. NRBF2 plays a crucial role in regulating autophagy by aiding the formation of autophagosomes, the double-membraned vesicles that engulf cellular materials for degradation. It interacts with the ULK1 kinase complex—which includes ULK1, ATG13, FIP200, and ATG101—enhancing its stability and activity, which is vital for initiating autophagy.

NRBF2

TYR (Tyrosinase): TYR is an enzyme that plays a key role in the melanin biosynthesis pathway, responsible for the initial steps of converting tyrosine into melanin pigments. Melanin is essential for the coloration of skin, hair, and eyes, and it provides protection against UV radiation. Mutations in TYR are linked to albinism, a condition marked by reduced or absent melanin, which can lead to visual impairments and a higher risk of skin cancer. TYR’s role in pigmentation highlights its importance in shielding against UV damage and supporting normal visual system development.

IFNLR1 (Interferon Lambda Receptor 1): IFNLR1 is a gene that encodes the receptor for interferon lambda, a type of interferon involved in the immune response against viral infections. It plays a crucial role in antiviral defence, especially in the respiratory and gastrointestinal tracts. IFNLR1 signalling helps control viral infections while minimising tissue damage caused by inflammation.

IFNLR1

NVL (Nuclear VCP-Like): NVL is a member of the AAA-ATPase family involved in various cellular processes, including ribosome biogenesis and the cellular stress response. It plays a role in maintaining cellular homeostasis and ensuring proper nucleolar function.

FRA10AC1 (Fragile Site, Folic Acid Type, Rare, Fra(10)(q23.3) Or FRA10A Candidate 1): FRA10AC1 is a gene linked to a rare fragile site on chromosome 10. Fragile sites are specific regions in the genome that exhibit increased vulnerability to breakage under certain conditions. These regions can lead to chromosomal instability and have been associated with various genetic disorders and cancers. Although the precise functions of FRA10AC1 are not completely understood, research is focused on its role in maintaining genomic stability and its potential association with developmental disorders and disease risk.

FRA10AC1

TFAP2B (Transcription Factor AP-2 Beta): TFAP2B is a gene that encodes a transcription factor which regulates gene expression during embryonic development and differentiation. Mutations in TFAP2B have been linked to developmental disorders and are also associated with conditions such as obesity and diabetes.

TFAP2B

H2BC1 (Histone H2B type 1-C/E/F/G/I) is a gene that encodes a protein belonging to the histone H2B family, essential for packaging DNA into chromatin in the nuclei of eukaryotic cells. Histones such as H2B play a crucial role in regulating gene expression by controlling the accessibility of DNA to transcription factors and the transcriptional machinery. H2BC1 specifically contributes to the formation of the nucleosome core, where H2B proteins, together with histones H2A, H3, and H4, assemble into an octameric complex around which the DNA is wrapped.

H2BC1

HSPA13 (Heat Shock Protein Family A (Hsp70) Member 13): HSPA13 is a gene that encodes a protein belonging to the heat shock protein family, known for helping protect cells from stress by assisting in protein folding, repair, and degradation. Although its specific functions are less understood, HSPA13 is believed to be involved in the cellular stress response and may play a role in conditions like cancer and neurodegenerative diseases, where protein misfolding and stress pathways are disrupted.

TCF4

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