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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.

<p>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.</p>

DNA Brain Health Test

NCK2 (NCK Adaptor Protein 2): NCK2 is a protein that links receptor tyrosine kinases to signaling pathways regulating cell growth, movement, and cytoskeletal organization. It participates in multiple signaling networks that enable cells to respond to external signals. Dysregulation of NCK2 has been associated with cancer progression and metastasis, highlighting its role in cell signaling 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 is important for regulating motor and sensory functions, and mutations in GLRB can cause neurological conditions such as hyperekplexia, marked by an exaggerated startle reflex.

GLRB

MST1 (Macrophage Stimulating 1): MST1 is a gene that encodes a protein involved in activating macrophages, which are crucial cells of the immune system. It plays a role in inflammation and immune defense and has been associated with the development of autoimmune diseases and certain types of cancer.

MST1

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

MAN1A2

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

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

BIN1

SIK2 (Salt-Inducible Kinase 2): SIK2 is a kinase belonging to the AMPK family that plays a role in regulating the body's energy balance. It affects lipid and glucose metabolism and is 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 belonging to the fibroblast growth factor family, which plays a role in cell growth, differentiation, and signaling. FGF5 regulates hair growth cycles and affects hair length in various species. It also participates in tissue development and repair, including functions in neural development. Abnormal FGF5 activity has been associated with certain diseases, including cancer.

FGF5

ISCA2 (Iron-Sulfur Cluster Assembly 2): ISCA2 is a protein involved in the assembly of iron-sulfur clusters, which are crucial for proper mitochondrial function and cellular energy production. ISCA2 plays a vital role in sustaining energy metabolism within cells, and mutations in this gene can cause mitochondrial disorders with varied clinical manifestations.

ISCA2

ZCCHC7 (Zinc Finger CCHC-Type Containing 7): ZCCHC7 is a member of the zinc finger protein family, recognised for their roles in DNA binding and gene regulation. Although its exact function is not fully understood, ZCCHC7 is believed to participate in processes such as transcriptional regulation, RNA processing, and DNA repair, influencing 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 a crucial role in regulating receptor signalling and is associated with 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 mechanism for regulating protein degradation and turnover. FBXO8 functions by aiding in the identification of specific proteins for breakdown, thus influencing crucial cellular processes such as the cell cycle, signal transduction, and immune response. Although its precise targets and functions are still under investigation, FBXO8’s role in protein degradation underscores its importance in maintaining cellular homeostasis and its potential link to diseases involving protein misfolding or aggregation, including 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 neurons, and sensory neurons. 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 being investigated, CCDC167 may participate in important cellular processes yet to be fully defined.

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 disorders such as type I 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 vital 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, underscoring its significance in epigenetic regulation and developmental processes.

ZFP57

CCBE1 (Collagen and Calcium Binding EGF Domains 1): CCBE1 is a gene crucial for lymphangiogenesis, the development of lymphatic vessels. It regulates vascular endothelial growth factor C (VEGF-C), an important factor in the formation of the lymphatic system. Mutations in CCBE1 can lead to Hennekam syndrome, a rare condition characterised by lymphedema, lymphangiectasia, and intellectual disability.

CCBE1

IRX2 (Iroquois Homeobox 2): IRX2 is a transcription factor belonging 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 that belongs to the neuroblastoma breakpoint family, with functions that are not yet fully understood. It may play a role in neurological development or function and could be linked to the onset of neuroblastoma, a type of 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 lacks enzymatic kinase activity. Although its exact functions are not yet fully understood, KNDC1 is believed to play a role in various cellular processes. Ongoing research aims to clarify its contributions to cell biology and function.

KNDC1

ENG (Endoglin): ENG is a glycoprotein that acts as part of the TGF-beta receptor complex and plays a crucial role in angiogenesis, vascular development, and remodeling. Mutations in this gene are associated with hereditary hemorrhagic telangiectasia, a disorder marked by abnormal blood vessel formation.

SIRT1 (Sirtuin 1): SIRT1 is a protein belonging to the sirtuin family, which regulates crucial cellular processes through protein deacetylation. SIRT1 plays a significant role in promoting longevity and controlling ageing. It affects gene expression, supports DNA repair, and assists cells in responding to stress, making it an essential factor in ageing and age-related health issues.

SIRT1

AEBP2 (Adipocyte Enhancer Binding Protein 2): AEBP2 is a DNA-binding transcription factor that plays a role in regulating gene expression and adipocyte differentiation. It is also a component of the Polycomb Repressive Complex 2 (PRC2), which contributes 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 its overexpression can 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 component of mitochondrial complex I, the first and largest enzyme complex in the electron transport chain. It supports complex I assembly, stability, and electron transfer from NADH to ubiquinone, aiding in the generation of the proton gradient necessary for ATP production via oxidative phosphorylation. Mutations in NDUFA11 can disrupt 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 neurons 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 Signaling 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. Changes in ASIP expression affect pigmentation patterns, skin cancer risk, and metabolic regulation, highlighting its important roles in both colouration and metabolic health.

ASIP

GNB3: GNB3 is a gene that encodes a subunit of G proteins, which assist in transmitting signals from outside the cell to its interior. A well-known variant (C825T) has been associated with traits such as hypertension and obesity, making GNB3 significant 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 functioning of UPB1 is crucial for nucleotide metabolism, and deficiencies can lead to beta-ureidopropionase deficiency, a rare disorder associated with neurological symptoms and developmental delays.

UPB1

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

SH3YL1

ZNF365 (Zinc Finger Protein 365): ZNF365 is a protein belonging to the zinc finger family, known for its function in DNA binding and gene expression regulation. It plays a role in the DNA damage response and repair processes, contributing to genomic stability. Variants of ZNF365 have been associated with an increased risk of diseases such as breast cancer and Crohn’s disease, highlighting its significance in cellular defense and disease susceptibility.

ZNF365

ZNF438, also known as Zinc Finger Protein 438, is a member of the zinc finger protein family, characterised by zinc finger domains that enable DNA binding and protein interactions. These proteins play key roles in regulating gene expression, chromatin remodelling, and RNA processing. ZNF438 primarily functions as a transcription factor, binding to specific DNA sequences to control the activity of target genes, often working together with other transcriptional regulators and chromatin modifiers to fine-tune cellular processes.

ZNF438

GIGYF1 (GRB10 Interacting GYF Protein 1): GIGYF1 is an adaptor protein that plays a crucial role in cellular signalling pathways, particularly those associated with insulin and IGF-1 receptors. Through its interaction with the GRB10 protein, GIGYF1 helps regulate cell growth, differentiation, and metabolism. It is vital for maintaining insulin sensitivity and glucose homeostasis, making it significant in metabolic regulation and diabetes. Furthermore, GIGYF1 is involved in the control of mRNA translation and stability, thereby affecting gene expression at the post-transcriptional level.

GIGYF1

UBL3 (Ubiquitin-Like 3): UBL3 is a gene that encodes a protein similar to ubiquitin, a key molecule in the protein degradation pathway. UBL3 is involved in protein modification and plays a role in essential cellular functions such as signal transduction and membrane trafficking. Dysregulation of UBL3 may lead to various cellular malfunctions.

UBL3

GUCY2F (Guanylate Cyclase 2F): GUCY2F is a gene that encodes guanylate cyclase, an enzyme responsible for regulating cyclic GMP (cGMP) levels within cells. It plays a key role in signal transduction and is especially important in sensory neurons, including the photoreceptor cells of the retina.

GUCY2F

FIBIN (Fibin): FIBIN is a gene that encodes a protein crucial for embryonic development, particularly in the formation of the heart and blood vessels. It participates in signalling pathways that guide cell differentiation and tissue formation. Mutations in FIBIN have been associated with developmental disorders impacting cardiovascular structure and function.

FIBIN

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.

ELFN2

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