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KCNK9 (Potassium Two Pore Domain Channel Subfamily K Member 9): KCNK9 encodes a two-pore-domain potassium channel that belongs to the potassium channel family. These channels play a key role in regulating the resting membrane potential and controlling neuronal excitability. Mutations in KCNK9 are associated with Birk-Barel mental retardation dysmorphism syndrome, highlighting its critical 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 crucial role in immune defense against pathogens and tumor cells. Variations in HLA-A can influence 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, affecting 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 helps preserve regulatory T cell identity and promotes immune tolerance. Dysregulation of IKZF2 has been associated with immune disorders and is being researched 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 forming the hair shaft. Variations or mutations in this gene can impact hair texture and strength, leading to different hair disorders. Research on KRT73 enhances the understanding of hair biology and potential treatments 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 of research into 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 encodes a histone acetyltransferase involved in chromatin remodeling and gene regulation. It plays essential roles in development, cell cycle control, and DNA repair. Mutations in KAT6B are associated with rare genetic disorders characterized 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 organization. By interacting with ephrin ligands, EPHB2 regulates key processes such as cell migration, adhesion, and axon guidance during development and throughout life. It is vital for maintaining the structure and function of tissues, particularly in the nervous system and epithelial layers. Dysregulation of EPHB2 signaling has been associated with conditions like cancer progression, neurodevelopmental disorders, and tissue malformations.

EPHB2

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

HDHD2

SLC5A6 (Solute Carrier Family 5 Member 6): SLC5A6 is a gene that encodes the sodium-dependent vitamin transporter, which is essential for the absorption of biotin (a B-vitamin) and possibly other water-soluble vitamins. This transporter plays a crucial 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 that plays a crucial role in the biosynthesis of phospholipids, which are essential components of cell membranes. It catalyzes the conversion of lysophosphatidic acid into phosphatidic acid, a vital step in the production of various phospholipids. Dysregulation of AGPAT5 can disrupt 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 helps regulate alternative splicing, 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 signaling. 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, that belongs to the family of I-type lectins. It recognizes sialic acid residues on cell surfaces and is primarily expressed on macrophages. SIGLEC1 plays important roles in cell-to-cell interactions, binding to sialylated pathogens, and modulating immune responses. It is involved in immune surveillance and has been associated with the development of infectious diseases and certain cancers.

SIGLEC

GNMT (Glycine N-Methyltransferase) is a key enzyme involved in methionine metabolism and liver detoxification. It helps regulate homocysteine levels by converting excess methionine into sarcosine, preventing harmful methionine buildup and supporting liver health. Dysfunction of GNMT is linked to liver conditions such as fatty liver disease and liver cancer. Ongoing research emphasizes GNMT’s protective role against liver toxicity and its potential as a marker 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 crucial role in regulating peptide loading onto MHC class II molecules, allowing immune cells to effectively present antigens to T cells. This function is vital for initiating immune responses against pathogens and maintaining immune tolerance. Changes in HLA-DMA activity can affect immune function and are associated with several autoimmune disorders, underscoring its importance in immune regulation and disease susceptibility.

HLA-DMA

SLC7A11 (Solute Carrier Family 7 Member 11): SLC7A11 is a crucial part 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 increased 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 helps tag proteins for degradation, controlling key regulators of the cell cycle. Dysregulation of G2E3 can lead to cell cycle disruptions and contribute to cancer development.

G2E3

CBLL1 (Cbl Proto-Oncogene Like 1): CBLL1 is a gene that encodes a protein related to the Cbl family, which plays a role in signal transduction and regulation of cellular activities. This protein is involved in the ubiquitin-proteasome pathway, helping control 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 crucial role in the functioning of voltage-gated calcium channels (VGCCs). These channels control calcium entry into cells in response to changes in membrane potential, affecting essential processes such as neurotransmitter release, muscle contraction, and gene expression. CACNB2 primarily acts as a regulatory subunit of VGCCs, interacting with the pore-forming alpha subunits to regulate their voltage sensitivity, channel opening and closing dynamics, and calcium conductance.

CACNB2

TNIP1 (TNFAIP3 Interacting Protein 1): TNIP1 is a protein that collaborates closely with TNFAIP3 to regulate immune responses by inhibiting NF-kB activation. It plays a crucial role in maintaining immune system balance and preventing autoimmunity. Dysregulation of TNIP1 has been linked to several autoimmune diseases, highlighting its significance in immune regulation. Ongoing research is investigating TNIP1’s potential for understanding and treating autoimmune disorders.

TNIP1

CPXM2 (Carboxypeptidase X, M14 Family Member 2) is a gene that encodes an enzyme responsible for modifying proteins by removing terminal amino acids. This process is essential in various biological functions, including protein maturation and degradation. The enzyme’s involvement in developmental processes and neural activity has also been recognized.

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 but may be involved in cellular structure due to its coiled-coil domain. These domains typically play a role in protein-protein interactions and cytoskeletal organization. Additional research is necessary to clarify 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 signaling.

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 compounds with glucuronic acid, facilitating their elimination from the body. UGT1A6 is vital for detoxification and maintaining overall metabolic balance.

UGT1A6

SHQ1 (SHQ1, H/ACA Ribonucleoprotein Assembly Factor): SHQ1 is a gene that encodes a protein essential for assembling H/ACA ribonucleoproteins (RNPs). These RNPs are involved in processing and modifying RNA, including the maturation of rRNA and snRNA, as well as stabilizing the telomerase RNA component (TERC). SHQ1 plays a key role in the biogenesis of H/ACA RNPs, which are critical for proper cell function and genomic stability. Disruptions in SHQ1 can impact RNA processing and contribute 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 the risk of venous thromboembolism and contributes to neutrophil migration and activation. Research on SLC44A2 helps clarify its effects 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 play a crucial role in intracellular signaling pathways activated by G protein-coupled receptors (GPCRs). GNG11 aids in modulating signal transduction across cell membranes, affecting various physiological functions such as sensory perception, immune response, and cell growth. Its role is vital for transmitting signals from outside the cell to the inside, enabling 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 regulating inflammatory responses and may affect 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, PRLR activates signaling pathways that control cell growth, development, and differentiation. Dysregulation of PRLR signaling has been associated with breast and other cancers, highlighting its role in cellular proliferation and its potential as a therapeutic target.

PRLR

MOXD1 (Monooxygenase DBH-Like 1): MOXD1 is a gene involved in oxidative reactions within cells. Although its exact functions and effects on human health are still being researched, 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 encodes a protein involved in regulating actin dynamics, a crucial component of the cellular cytoskeleton. It plays a significant role in cell movement, structure, and signaling. Alterations or disruptions in CARMIL1 can affect cell motility and have been linked to immune system dysfunction and certain types of cancer.

CARMIL1

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

TLR1

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

FHOD3

ZNF704 (Zinc Finger Protein 704): ZNF704 is part of the zinc finger protein family, known for their DNA-binding motifs and role in gene regulation. Although its specific functions are not yet fully defined, ZNF704, like other zinc finger proteins, is likely involved in transcriptional regulation, influencing various cellular processes. It may be involved in development and disease mechanisms, particularly in situations where controlling gene expression is critical.

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 tumor 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) inside cells. Unlike other members of this family, 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, producing superoxide radicals. The ROS generated by NOX4 function as signaling 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 regulating neuronal excitability and synaptic communication. Mutations in CHRNA4 have been linked to certain types of epilepsy and other neurological disorders, underscoring its essential role in brain function.

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 function of GLYCTK is essential for energy metabolism, and dysfunctions in this enzyme have been linked to D-glyceric aciduria, a rare metabolic disorder.

GLYCTK

HLCS (Holocarboxylase Synthetase): HLCS is an enzyme vital for the proper function of carboxylase enzymes, which are crucial in the metabolism of proteins, carbohydrates, and lipids. Mutations in HLCS can lead to holocarboxylase synthetase deficiency, a rare metabolic disorder marked by multiple carboxylase deficiencies, resulting in problems with the skin, hair, immune system, 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 key role in sorting cargo proteins to lysosomes and related organelles. Mutations in AP3B2 are associated with 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 essential for maintaining genomic stability and ensuring proper cell division. Dysregulation of HASPIN activity can lead to chromosomal abnormalities and is being studied for its potential role in cancer development as well as a target for cancer therapies.

HASPIN

OTOP1 (Otopetrin 1): OTOP1 is a gene involved in the function 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 in the MHC class I family, playing 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 affect the effectiveness of the immune response, influencing susceptibility to infections, autoimmune diseases, and transplantation outcomes.

HLA-C

FARP2 (FERM, ARH/RhoGEF, and Pleckstrin Domain Protein 2): FARP2 is a signaling protein that plays a crucial role in neuronal development and synaptic plasticity. It regulates dendritic spine formation and actin cytoskeleton remodeling by functioning as a guanine nucleotide exchange factor for small GTPases. Through these mechanisms, FARP2 affects neuronal connectivity and function. Alterations in FARP2 expression or activity are associated with neurological disorders, highlighting its significance 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 cellular energy production and supports the preservation 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 essential for the structure and function of basement membranes in various tissues. Laminins contribute to cell adhesion, differentiation, migration, and signaling. LAMA5 plays an important role in vascular and neural development and has been linked to pathological conditions like 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, functioning as a transporter of tyrosine, a key precursor in the melanin biosynthesis pathway. Variants of SLC45A2 contribute to differences in human pigmentation, affecting skin, hair, and eye color. Mutations in this gene can lead to oculocutaneous albinism type 4, characterized by reduced pigmentation and visual impairments. The role of SLC45A2 in pigmentation influences not only physical appearance but also protection against UV radiation and the regulation of vitamin D synthesis.

SLC45A2

CENPW (Centromere Protein W): CENPW is a gene that plays a critical role in chromosome segregation during cell division, contributing to the formation and function of the centromere. It is vital for accurate cell division, and its dysfunction may lead to chromosomal instability, which is commonly observed in 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 critical role in signaling pathways that govern cell proliferation, differentiation, and survival. In addition to these cellular functions, ERBB4 also impacts organ development, synaptic plasticity, and cardiac function. Activation of ERBB4 triggers downstream signaling cascades that influence gene expression and cellular behavior, contributing to tissue homeostasis and development. Dysregulation of ERBB4 has been associated with various diseases, including cancer, neurological disorders, and heart 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, controlling their stability and translation. Proper function 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, potentially affecting development and immune system function.

HIVEP2

NOTCH1 (Notch Receptor 1): NOTCH1 is a critical component of the Notch signaling pathway, which plays a vital role in determining cell fate, maintaining stem cells, and guiding differentiation during both embryonic and adult tissue development. Dysregulation of NOTCH1 signaling is associated with various disorders, including several cancers such as T-cell acute lymphoblastic leukemia, as well as developmental defects. Its wide-ranging impact on cell proliferation and differentiation makes NOTCH1 a key focus in developmental biology and cancer research.

NOTCH1

CANT1 (Calcium Activated Nucleotidase 1): CANT1 is a gene that encodes an enzyme involved in the breakdown of UDP, a nucleotide crucial for glycosaminoglycan synthesis. Mutations in CANT1 are associated with skeletal disorders such as Desbuquois dysplasia, highlighting its role 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 metabolizing and detoxifying the chemotherapy 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, lowering 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 efficacy 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 crucial 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 vital 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 involved in maintaining and regenerating the lens of the eye. It plays a crucial role in preserving the lens's transparency and refractive functions. Mutations in LGSN are associated with cataract formation, underscoring its significance in eye health and lens development.

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 organization, 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, specifically in the differentiation and function of neurons. 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 crucial role in regulating histamine levels and is important for allergic reactions, 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 key role in energy metabolism. It helps regulate genes involved in energy production, including mitochondrial biogenesis and fatty acid metabolism. This gene is important in metabolic processes and has been associated with 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 diseases such as kidney and cardiovascular disorders and 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 cytoskeleton organization and may affect essential cellular processes such as cell division and intracellular transport.

STMN4

FUT5 (Fucosyltransferase 5): FUT5 is an enzyme involved in fucose metabolism, responsible for adding fucose to glycans. These glycans play essential roles in cell-cell interaction and communication. Changes in FUT5 activity can affect immune responses and have been studied in relation to cancer.

FUT5

TNP1, or Transition Protein 1, is a protein primarily located in the nuclei of developing spermatids — the immature male germ cells — during spermiogenesis, the final phase of spermatogenesis when round spermatids develop into spermatozoa. TNP1 is part of a family of small, highly basic transition proteins that play a role in chromatin remodeling throughout this process. Its key function is to help replace histones with protamines, specialized proteins that tightly condense DNA within the sperm nucleus.

TNP1

Gluten Sensitivity (Non-Celiac): Gluten Sensitivity is a condition in which individuals experience symptoms similar to celiac disease after consuming gluten, but without the autoimmune intestinal damage typical of celiac disease. While the exact cause is unknown, it is believed to involve an innate immune response to gluten in genetically predisposed individuals.

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 primarily expressed in the nervous system. It plays a crucial role in neurite outgrowth and the formation of neuronal networks, as well as in the development and maintenance of the myelin sheath, which is essential for efficient nerve signal transmission. GPM6A is associated with neurological disorders such as schizophrenia and bipolar disorder due to its role 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 with limited available information. Genes in the FAM216 family are believed to be involved in various cellular processes, but the specific function and role of FAM216B in human health and disease remain largely unknown.

FAM216B

CDK6 (Cyclin-Dependent Kinase 6): CDK6 is a protein that, when paired with D-type cyclins, plays a crucial role in regulating the cell cycle, particularly the transition from the G1 to S phase. It is vital for cell proliferation and differentiation. Dysregulation of CDK6 has been linked to various cancers, making it a significant target for cancer treatments, especially in tumors exhibiting CDK6 overexpression or abnormal activity.

CDK6

ZGRF1, also known as Zinc finger GRF-type containing 1, is a protein characterized by the presence of zinc finger domains—common motifs involved in binding nucleic acids and mediating protein-protein interactions. Primarily located in the cell nucleus, ZGRF1 is thought to function as a transcription factor or regulator of gene expression. While the specific roles of ZGRF1 are still being researched, zinc finger proteins typically play crucial roles in various cellular processes such as gene transcription, RNA processing, and chromatin remodeling. These proteins can serve as transcriptional activators or repressors by binding to particular DNA sequences.

ZGRF1

TPO (Thyroid Peroxidase) is a gene that encodes an enzyme essential 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). Dysregulation 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 crucial role in regulating various 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 managing cell survival and apoptosis. It activates in response to growth factors, cytokines, and other extracellular signals that encourage cell growth and survival. Once activated, AKT3 phosphorylates downstream targets such as BAD and caspase-9, which are key in regulating apoptosis.

AKT3

SHC1 (SHC Adaptor Protein 1): SHC1 is a protein that plays a crucial role in cellular signaling by functioning as an adaptor in pathways that regulate cell growth, differentiation, and survival. It mediates the activation of the Ras/MAPK signaling pathway, affecting 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 important role in cell signaling and disease progression.

SHC1

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

ZNF804A

VCAN (Versican): VCAN is a gene that encodes versican, a large proteoglycan located 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, organization, and maintenance. It is primarily found in connective tissues, contributing to the structural integrity and elasticity of the extracellular matrix (ECM). TNXB supports cell adhesion, migration, and proliferation, influencing processes such as wound healing, tissue remodeling, 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 signaling and cytoskeletal dynamics. It plays a crucial role in cell migration, adhesion, and invasion. Dysregulation of PEAK1 has been associated with cancer progression and metastasis, as it enhances tumor cell mobility and invasion into surrounding tissues.

PEAK1

GCSAML (Germinal Center-Associated Signaling And Motility-Like): GCSAML is a gene that is not well characterized but is believed to play a role in immune cell signaling and motility, particularly 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 degrades and recycles damaged or unnecessary components. NRBF2 plays a key role in regulating autophagy by helping form autophagosomes, the double-membraned vesicles that capture cellular cargo for degradation. It interacts with the ULK1 kinase complex—which includes ULK1, ATG13, FIP200, and ATG101—promoting its stability and activity, which is essential 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 to viral infections. It plays a key role in antiviral defense, especially in the respiratory and gastrointestinal tracts. IFNLR1 signaling helps control viral infections while limiting 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 response to cellular stress. 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 are more prone to breakage under certain conditions. These sites can contribute to chromosomal instability and have been associated with various genetic disorders and cancers. Although the precise functions of FRA10AC1 are not fully understood, research is focused on its role in maintaining genomic stability and its potential connection to developmental disorders and disease risk.

FRA10AC1

TFAP2B (Transcription Factor AP-2 Beta): TFAP2B is a gene that encodes a transcription factor involved in regulating 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 in the histone H2B family, which is essential for packaging DNA into chromatin within eukaryotic cell nuclei. Histones such as H2B play a crucial role in regulating gene expression by controlling DNA access to transcription factors and related machinery. Specifically, H2BC1 helps form the nucleosome core, where H2B proteins combine with histones H2A, H3, and H4 to create an octameric complex around which 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, which helps protect cells from stress by aiding in protein folding, repair, and degradation. Although its specific functions are not well understood, HSPA13 is thought to play a role in the cellular stress response and may be involved in conditions such as cancer and neurodegenerative diseases, where protein misfolding and stress pathways are disrupted.

HSPA13

CDKN1C (Cyclin-Dependent Kinase Inhibitor 1C): CDKN1C is a gene that encodes the cyclin-dependent kinase inhibitor p57^Kip2, which regulates the cell cycle by inhibiting cyclin-CDK complexes. It plays a critical role in controlling cell growth and development. Mutations in CDKN1C are linked to overgrowth disorders such as Beckwith-Wiedemann syndrome and Silver-Russell syndrome.

CDKN1C

DPPA2 (Developmental Pluripotency-Associated 2): DPPA2 is a gene linked to pluripotency and involved in regulating the identity of embryonic stem cells. It helps maintain the undifferentiated state of these stem cells and is part of the molecular machinery that controls gene expression related to pluripotency.

DPPA2

INHBC (Inhibin Beta C Subunit) is a member of the activin-inhibin family, which plays key roles in regulating reproduction, cell growth, and differentiation. It is involved in controlling the levels of follicle-stimulating hormone (FSH). Dysregulation of INHBC can affect reproductive health and may be associated with certain cancers.

INHBC

SPINK6 (Serine Peptidase Inhibitor, Kazal Type 6): SPINK6 is a gene that encodes a protein involved in skin barrier function and regulation. It functions as an inhibitor of serine proteases, enzymes that play key roles in processes such as inflammation and immune response. SPINK6 has also been associated with various skin diseases.

MITF

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