MYH15 (Myosin Heavy Chain 15): MYH15 is a gene that codes for a myosin heavy chain protein, mainly found in skeletal muscle. Myosins are motor proteins crucial for muscle contraction and cell movement. Although the specific functions of MYH15 are still being studied, it may be involved in muscle development and overall muscle function.

MYH15

MCPH1 (Microcephalin 1): MCPH1 is a gene that plays a crucial role in brain development, especially in regulating brain size. It is involved in the DNA damage response and cell cycle regulation. Mutations in MCPH1 can cause microcephaly, underscoring its significant role in neurodevelopment.

MCPH1

TMEM116 (Transmembrane Protein 116): TMEM116 is a gene that encodes a transmembrane protein involved in various cellular processes. Although its specific function is still under investigation, TMEM116 is believed to play a role in cellular transport and signaling pathways, including membrane dynamics, vesicle trafficking, and regulation of ion channels. Emerging studies indicate it may contribute to cellular homeostasis and intracellular communication, and dysregulation of TMEM116 could affect multiple physiological processes.

TMEM116

PPARG (Peroxisome Proliferator-Activated Receptor Gamma): PPARG is a nuclear receptor that regulates the expression of genes involved in fatty acid storage, glucose metabolism, and adipocyte differentiation. It plays a central role in insulin sensitivity and is targeted by thiazolidinediones, a class of antidiabetic drugs. Its involvement in metabolic pathways makes it an important gene in the study of obesity, diabetes, and cardiovascular disease.

PPARG

SERPINE2 (Serpin Family E Member 2): SERPINE2 is a serine protease inhibitor, also known as protease nexin-1, that plays a key role in regulating proteolytic pathways in the body. It is involved in tissue remodeling, fibrinolysis, and neuronal growth, and helps inhibit enzymes such as thrombin and urokinase-type plasminogen activator, which are important for blood clotting and tissue repair. Dysregulation of SERPINE2 has been linked to cardiovascular and neurological disorders, highlighting its importance in maintaining tissue integrity and function.

SERPINE2

OAT (Ornithine Aminotransferase): OAT is a gene that encodes the ornithine aminotransferase enzyme, which plays a crucial role in the urea cycle. This enzyme catalyzes the conversion of ornithine to citrulline, aiding the body in detoxifying ammonia. Mutations in OAT can interfere with this process, resulting in hyperammonemia — a condition characterized by elevated blood ammonia levels that can impact neurological function.

LRRC42 (Leucine-rich repeat-containing protein 42): LRRC42 is a gene that encodes a protein belonging to the leucine-rich repeat (LRR) family, characterized by repeating sequences rich in leucine residues. Primarily located in the cytoplasm or on the cell membrane, LRRC42 is involved in cellular processes such as signal transduction, protein-protein interactions, and cell adhesion. Its LRR domains act as interaction interfaces, allowing LRRC42 to bind specific partner proteins and engage in various cellular pathways.

LRRC42

KIAA1109: KIAA1109 is a gene linked to various autoimmune diseases, including rheumatoid arthritis, systemic lupus erythematosus, and inflammatory bowel disease. Although its precise function is not completely understood, it is believed to play a crucial role in immune regulation and the body’s inflammatory responses. Researching KIAA1109 is essential for understanding the genetic foundations of autoimmune disorders and for supporting the development of targeted treatments.

KIAA1109

LRRC6 (Leucine-Rich Repeat-Containing Protein 6): LRRC6 is a gene that encodes a protein involved in the structure of cilia within cells. Cilia play a crucial role in cell movement and signaling. Mutations in LRRC6 can result in ciliopathies, a group of genetic disorders characterized by ciliary dysfunction and a variety of clinical symptoms.

LRRC6

HMGCS2 (3-Hydroxy-3-Methylglutaryl-CoA Synthase 2): HMGCS2 is a gene that encodes an enzyme involved in the production of ketone bodies—alternative energy sources generated during fasting or low-carbohydrate conditions. It plays a key role in energy metabolism and is primarily expressed in the liver.

HMGCS2

NFKBIE (NF-Kappa-B Inhibitor Epsilon): NFKBIE is a gene that encodes a key regulator of the NF-kappa-B pathway, which plays an important role in immune responses, inflammation, and cell survival. It functions by inhibiting NF-kappa-B activity, helping to control the expression of genes involved in immune and inflammatory processes. Dysregulation of NFKBIE has been associated with autoimmune diseases, chronic inflammation, and cancer, highlighting its role in immune regulation and disease development.

NFKBIE

TLN2 (Talin 2): TLN2 is a gene that encodes the talin 2 protein, which is involved in integrin-mediated signaling and plays a key role in cell adhesion, migration, and signaling. It contributes to the formation and stabilization of integrin-based adhesions and may influence important cellular processes, including immune responses and cancer progression.

TLN2

EIF4A1, also known as Eukaryotic Translation Initiation Factor 4A1, is a highly conserved RNA helicase enzyme that plays a crucial role in the initiation of translation, the essential process of protein synthesis. As a member of the DEAD-box RNA helicase family, EIF4A1 is responsible for unwinding secondary structures in mRNA, enabling ribosomes to access the initiation codon and begin protein production. It functions as part of the eukaryotic translation initiation complex, working alongside other initiation factors to bind and scan the 5' untranslated region (UTR) of mRNA.

EIF4A1

STMN3 (Stathmin 3): STMN3 is a protein that regulates microtubule dynamics by destabilizing microtubules. This function is essential for processes such as cell division, intracellular transport, and cell movement. In neurons, STMN3 contributes to axonal growth and synaptic function, and its dysregulation may be associated with neurodevelopmental and neurodegenerative disorders.

STMN3

ADAL (Adenosine Deaminase-Like): ADAL (Adenosine Deaminase-Like) is a protein similar to adenosine deaminase (ADA) and plays a role in purine metabolism. It is crucial for breaking down adenosine, a molecule important for cellular energy transfer and signaling. ADAL’s activity in adenosine metabolism is vital for maintaining cellular energy balance and nucleotide homeostasis.

ADAL

RBM17 (RNA Binding Motif Protein 17): RBM17 is a protein involved in RNA splicing, a crucial process in gene expression. It plays a significant role in regulating alternative splicing, which influences the diversity of proteins produced from a single gene. Changes in RBM17 may be linked to diseases such as cancer, where disrupted splicing can affect cell growth and survival.

RBM17

NNMT (Nicotinamide N-Methyltransferase): NNMT is an enzyme that methylates nicotinamide (vitamin B3) and plays a crucial role in regulating cellular metabolism and energy balance. Its activity has been linked to obesity, metabolic disorders, and cancer, making NNMT a significant target for therapeutic interventions.

NNMT

LRTM1 (Leucine Rich Repeats And Transmembrane Domains 1): LRTM1 is a gene involved in neural development and synaptic function. It plays a key role in neuronal communication and is potentially linked to neurodegenerative diseases, making it important for understanding brain health and neurological disorders.

LRTM1

OR2M3 (Olfactory Receptor, Family 2, Subfamily M, Member 3): OR2M3 is a gene that is part of the large olfactory receptor family responsible for the sense of smell. These receptors detect volatile odor molecules and are highly diverse, allowing the perception of a wide range of scents. OR2M3 is expressed in the olfactory epithelium of the nose and plays a crucial role in odor detection and signal transmission to the brain. Research on OR2M3 and related receptors contributes to a deeper understanding of smell and holds potential applications in flavor science and sensory biology.

OR2M3

LPIN2 (Lipin 2): LPIN2 is a protein that plays a crucial role in lipid metabolism and energy production, especially in converting phosphatidic acid to diacylglycerol, a key step in the synthesis of triglycerides and phospholipids. It also helps regulate gene expression related to lipid metabolism and inflammation. Mutations in LPIN2 are linked to Majeed syndrome, which is characterized by chronic recurrent multifocal osteomyelitis, dermatitis, and dyserythropoietic anemia, highlighting its significance in both metabolic and immune functions.

LPIN2

GFI1B (Growth Factor Independence 1B): GFI1B is a transcriptional repressor that plays a crucial role in the development and differentiation of red blood cells and platelets. It regulates genes involved in the cell cycle and apoptosis, helping to maintain a balance between cell growth and maturation. Dysregulation of GFI1B is linked to blood disorders such as anemia and thrombocytopenia and also contributes to the development of leukemia. Its function is essential for maintaining hematopoietic cell balance and underscores the complexity of blood cell production.

GFI1B

NLGN1 is a measure that indicates the presence and function of a key protein in the nervous system — Neuroligin 1, which is encoded by the NLGN1 gene. It plays an essential role in the formation and regulation of synapses, supporting synaptic specialization, strength, and plasticity. NLGN1 is crucial for learning, memory, and overall brain function, and has been a significant focus in research on autism spectrum disorders and other neurodevelopmental conditions.

NLGN1

CSDC2 (Cold Shock Domain Containing C2): CSDC2 is a protein involved in RNA binding and regulation of gene expression. It is thought to play a role in cellular responses to environmental stresses, especially temperature changes. While its exact functions in human health and disease are still being studied, ongoing research seeks to clarify its roles.

CSDC2

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

ARHGAP9

DCDC2 (Doublecortin Domain Containing 2): DCDC2 is a gene involved in neuronal migration and differentiation, particularly during brain development. It plays a crucial role in cognitive processing and language development and has been associated with dyslexia and other learning disabilities.

DCDC2

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

LARP4B (La-Related Protein 4B): LARP4B is part of the La-related protein (LARP) family, which is involved in regulating RNA stability and translation. Although the specific roles of LARP4B are still under investigation, LARPs generally play a role in post-transcriptional gene regulation by influencing mRNA stability, translation, and cell growth. Studying LARP4B may offer valuable insights into gene expression control and its connections to diseases related to RNA dysregulation.

LARP4B

FBXO21 (F-Box Protein 21): FBXO21 is a gene that encodes a protein from the F-box family, which plays a crucial role in the ubiquitin-proteasome system responsible for protein degradation. It is involved in regulating key cellular processes such as the cell cycle and signal transduction. Dysregulation of FBXO21 can impact protein homeostasis and is significant in diseases marked by impaired protein turnover, including neurodegenerative disorders and cancers.

FBXO21

WSB1 (WD Repeat And SOCS Box Containing 1): WSB1 is a member of the SOCS (Suppressor of Cytokine Signaling) box family, which participates in protein degradation pathways. It plays a crucial role in regulating various signaling pathways and is involved in the response to hypoxia as well as in the regulation of thyroid hormone activation.

WSB1

ZFP64 (ZFP64 Zinc Finger Protein): ZFP64 is a zinc finger protein involved in gene regulation. Zinc finger proteins can bind to specific DNA sequences and influence gene expression. The specific targets and functions of ZFP64 in cellular processes are still being studied.

ZFP64

FOXP1

ZCCHC14 (Zinc Finger, CCHC Domain Containing 14): ZCCHC14 is a gene that encodes a protein containing zinc finger and CCHC domains. These domains indicate a role in nucleic acid binding and regulation. Although the specific functions of ZCCHC14 remain under investigation, ongoing research seeks to clarify its role in cellular processes.

ZCCHC14

TNFRSF1A (Tumor Necrosis Factor Receptor Superfamily Member 1A): TNFRSF1A is a gene that encodes a receptor in the TNF receptor superfamily, which plays a key role in mediating cellular responses to tumor necrosis factor-alpha (TNF-α). This receptor is involved in regulating inflammation, immune responses, apoptosis, and cell proliferation. By binding TNF-α, TNFRSF1A can trigger signaling pathways that influence cell survival, death, and inflammatory processes, highlighting its importance in immune system regulation and disease mechanisms.

TNFRSF1A

PSD3 (Pleckstrin and Sec7 Domain Containing 3) is a gene that encodes a protein involved in intracellular trafficking and signaling. It contains a Sec7 domain, which is linked to guanine nucleotide exchange factors that activate ARF GTPases, essential for vesicle formation and trafficking. Dysfunction in PSD3 may affect cellular communication and transport processes.

PSD3

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

MYRIP

SLITRK1 (SLIT and NTRK-Like Family Member 1): SLITRK1 is a gene that encodes a protein from the SLITRK family. This protein plays a key role in neuronal development and synaptic function. SLITRK1 is involved in processes such as neurite outgrowth and the formation and maintenance of neuronal connections.

SLITRK1

PLEKHM1 (Pleckstrin Homology Domain-Containing Family M Member 1): PLEKHM1 is a protein involved in autophagy and lysosome function. It plays a key role in the fusion of autophagosomes with lysosomes, a crucial step in the autophagic process. Mutations in PLEKHM1 have been associated with osteopetrosis, a rare bone disease.

PLEKHM1

SUOX (Sulfite Oxidase): SUOX encodes an enzyme vital for the metabolism of sulfur-containing amino acids. It catalyzes the final step in breaking down cysteine and methionine by converting sulfite into sulfate, which is then eliminated through urine. Proper SUOX function prevents sulfite accumulation, which can lead to neurological damage and physical abnormalities known as sulfite oxidase deficiency, highlighting the enzyme’s essential role in amino acid metabolism and preventing neurotoxicity.

SUOX

FAP (Fibroblast Activation Protein Alpha): FAP is a gene that encodes an enzyme called fibroblast activation protein alpha. This enzyme is produced by activated fibroblasts within the tumor microenvironment. It plays a key role in tissue remodeling and is regarded as a potential therapeutic target in cancer treatment.

PDCD6IP (Programmed Cell Death 6 Interacting Protein): PDCD6IP is a protein that indicates the balance and regulation of essential cellular processes. Also known as ALIX, it participates in endocytosis, membrane repair, and cell death pathways. PDCD6IP plays a vital role in multivesicular body formation and the budding of enveloped viruses like HIV. Malfunctions in PDCD6IP are linked to neurodegenerative diseases and cancer, highlighting its significance in autophagy, apoptosis, and overall cellular homeostasis.

PDCD6IP

PFKM (Phosphofructokinase, Muscle): PFKM is a gene that encodes an enzyme essential for glycolysis and glucose metabolism in muscle tissue. It plays a key role in producing energy during physical activity and muscle contraction, making it vital for optimal muscle performance and function.

PFKM

PRKAG2 (Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2): PRKAG2 encodes a regulatory subunit of AMP-activated protein kinase (AMPK), a key enzyme involved in cellular energy regulation. It plays a role in sensing cellular energy status and activating pathways that help restore energy balance.

PRKAG2

CD40 (Cluster of Differentiation 40): CD40 is a cell surface receptor protein that plays a central role in the immune system. It is primarily expressed on B cells and antigen-presenting cells. Activation of CD40 is essential for B cell maturation, antibody production, and the development of adaptive immunity. Mutations in CD40 or its ligand CD40L can lead to immunodeficiency disorders.

CD40

LEPR (Leptin Receptor): LEPR is a receptor for the hormone leptin, playing a crucial role in regulating energy balance, including appetite and metabolism. Proper LEPR function is essential for the body to respond to leptin signals, while mutations in LEPR can lead to leptin resistance, a condition commonly linked to obesity.

LEPR

LSR (Lipolysis-Stimulated Lipoprotein Receptor): LSR is a gene that encodes a receptor protein involved in the uptake of lipoproteins, including chylomicrons and very-low-density lipoproteins (VLDL). It plays a crucial role in lipid metabolism and the transport of dietary fats. Dysregulation of LSR can contribute to lipid disorders and cardiovascular diseases.

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

UCP3 (Uncoupling Protein 3): UCP3 is a mitochondrial protein that contributes to thermogenesis and energy balance. It plays a role in regulating body weight and metabolism, and its activity can influence the risk of obesity and metabolic disorders.

UCP3

SLC12A1 (Solute Carrier Family 12 Member 1): SLC12A1 is a transporter protein that belongs to the solute carrier (SLC) family. It plays a crucial role in the kidney by enabling the reabsorption of sodium and chloride ions. This function is vital for maintaining electrolyte balance and regulating blood pressure. During the complex filtration process in the renal system, SLC12A1 ensures accurate ion reabsorption to support overall bodily homeostasis.

SLC12A1

ADO (Adenosine Deaminase, RNA-Specific): ADO is a gene that encodes an enzyme responsible for RNA-specific adenosine deamination. This enzyme catalyzes the conversion of adenosine to inosine in RNA molecules, affecting RNA stability, function, and regulation. ADO plays a crucial role in RNA editing, contributing to the diversity and functionality of RNA molecules.

CNTN2 (Contactin 2): CNTN2 is a neuronal cell adhesion molecule, also known as TAG-1, that plays a crucial role in the development and function of the nervous system. It is involved in forming neural circuits and synaptic connections. Variations or mutations in CNTN2 have been linked to neurodevelopmental disorders and may affect neurological processes like learning and memory.

CNTN2

OPTN (Optineurin): OPTN is a protein involved in key cellular processes, including membrane trafficking, autophagy, and NF-κB signaling. Mutations in this gene are linked to glaucoma and amyotrophic lateral sclerosis (ALS). Its roles in autophagy and neuroinflammation make it a significant focus in research on neurodegenerative diseases and neuronal cell death.

OPTN

MANBA (Mannosidase Beta): MANBA is a gene that encodes a lysosomal enzyme responsible for breaking down N-linked glycoproteins. It catalyzes the hydrolysis of beta-linked mannose residues, playing a crucial role in glycoprotein degradation. A deficiency in MANBA activity can cause lysosomal storage disorders, leading to the accumulation of undegraded glycoproteins and disrupting cellular function.

MANBA

ECHDC3, also known as Enoyl-CoA Hydratase Domain-Containing Protein 3, is an enzyme involved in fatty acid metabolism. It contains a domain typical of enoyl-CoA hydratases, which catalyze the hydration of enoyl-CoA intermediates in the β-oxidation pathway. This pathway is a key metabolic process that breaks down fatty acids into acetyl-CoA within mitochondria and peroxisomes, supporting energy production. ECHDC3 plays an important role in facilitating fatty acid β-oxidation, which ultimately helps generate ATP, the cell’s main energy source.

ECHDC3

LRRN1 (Leucine-Rich Repeat Neuronal 1): LRRN1 is a gene that highlights its role in neural development. It encodes a protein that is part of the leucine-rich repeat family, which plays a key role in protein-protein interactions and in the formation and maintenance of neural connections. LRRN1 is important for understanding neural development and may be involved in neurodevelopmental disorders.

LRRN1

LEMD3 (Lamin-Associated Polypeptide 2, Isoform 1): LEMD3 is a gene that encodes a protein linked to the nuclear envelope, playing a role in the structure and organization of the nucleus. Mutations in LEMD3 have been associated with Buschke-Ollendorff syndrome, a rare genetic disorder affecting bone and skin.

LEMD3

TUSC1 (Tumor Suppressor Candidate 1): TUSC1 is a gene thought to act as a tumor suppressor, involved in regulating cell growth and promoting apoptosis. Decreased expression of TUSC1 has been noted in various cancers, supporting its potential protective role against cancer development.

TUSC1

PCDH15 (Protocadherin 15): PCDH15 is a gene that encodes a member of the protocadherin family, which plays a crucial role in cell-to-cell adhesion and neuronal connectivity. PCDH15 is vital for the proper function of sensory hair cells in the inner ear, and mutations in this gene are linked to hearing loss and deafness.

PCDH15

FBXL17 (F-Box and Leucine-Rich Repeat Protein 17): FBXL17 is a member of the F-box protein family, which are key components of the SCF (SKP1-cullin-F-box) complex. This complex plays a crucial role in the ubiquitination and proteasomal degradation of target proteins. FBXL17 helps regulate cellular processes such as cell cycle progression, signal transduction, and transcription by recognizing and binding phosphorylated substrates through its F-box motif and leucine-rich repeats, marking them for degradation. Proper regulation of protein turnover by FBXL17 is essential for maintaining cellular homeostasis and function.

FBXL17

LYRM7 (LYR Motif Containing 7): LYRM7 is a gene that encodes a protein involved in assembling mitochondrial complex I, a crucial component of the mitochondrial respiratory chain. This complex is vital for energy production through oxidative phosphorylation. Mutations or dysregulation of LYRM7 can lead to mitochondrial dysfunction, contributing to metabolic and neurodegenerative disorders. Its role in energy metabolism highlights its importance in maintaining cellular function and viability.

LYRM7

SYT10 (Synaptotagmin X): SYT10 is part of the synaptotagmin family involved in regulating neurotransmitter release and intracellular signaling. It acts as a calcium sensor that modulates calcium-dependent exocytosis, especially in non-neuronal tissues. SYT10 plays a crucial role in releasing neuropeptides and hormones in response to intracellular calcium levels. Its functions in neurotransmission and synaptic plasticity indicate potential importance in neurological conditions and cognitive functions. Dysregulation of SYT10 has been associated with various disorders.

SYT10

TBX20 (T-Box 20): TBX20 is a gene that encodes a transcription factor crucial for heart development and function. It plays a vital role in cardiac cell differentiation and heart morphogenesis. Mutations in TBX20 are associated with congenital heart defects and cardiomyopathies.

TBX20

MACF1 (Microtubule-Actin Crosslinking Factor 1): MACF1 is a gene that encodes a cytoskeletal linker protein responsible for stabilizing and connecting microtubules and actin filaments. It plays a crucial role in cell movement, neuronal development, and cellular signaling. Dysfunction of MACF1 is linked to developmental disorders and may contribute to cancer metastasis.

MACF1

PKD2L1 (Polycystic Kidney Disease 2-Like 1): PKD2L1 is a transmembrane protein from the polycystic kidney disease family, primarily located in sensory neurons of the peripheral nervous system and certain epithelial cells. It plays a critical role in chemosensation and mechanosensation, particularly in detecting sour taste. Functioning as a non-selective cation channel, PKD2L1 allows ion influx in response to extracellular stimuli, triggering cellular reactions. It is also involved in processes like gastrointestinal sensory signaling and blood pressure regulation.

PKD2L1

SOCS2 (Suppressor of Cytokine Signaling 2) is a protein that regulates the cytokine signaling pathway, helping maintain immune balance and prevent excessive inflammation. It modulates signals from growth hormones and various cytokines, influencing cell growth, differentiation, and survival.

SOCS2

SYNDIG1 (Synapse Differentiation Inducing 1): SYNDIG1 is a protein involved in the formation and differentiation of synapses in the nervous system. It plays a key role in synaptic plasticity and neuronal communication, both essential for learning and memory.

SYNDIG1

LIN28B is a highly conserved RNA-binding protein that regulates key cellular processes such as stem cell maintenance, development, metabolism, and oncogenesis. A member of the LIN28 family alongside LIN28A, it modulates gene expression at the post-transcriptional level by binding specific mRNA targets. LIN28B primarily functions as a translational repressor, blocking ribosome recruitment, and can also influence mRNA stability and processing through interactions with other RNA-binding proteins and microRNAs (miRNAs).

LIN28B

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 anesthesia. Mutations or dysfunctions in KCNK2 have been linked to neurological conditions like epilepsy and paroxysmal movement disorders.

KCNK2

PON2 (Paraoxonase 2): PON2 is a gene that encodes an enzyme in the paraoxonase family, which is involved in detoxification and antioxidant defense. This enzyme helps protect cells from oxidative stress and lipid peroxidation, playing an important role in cardiovascular health and other conditions related to oxidative damage.

POM2

APCS (Amyloid P Component, Serum): APCS is a protein that plays a key role in the innate immune system, helping respond to infection and injury. It binds to pathogens and damaged cells to support their clearance and is also involved in amyloid plaque formation, linking it to diseases like Alzheimer’s. Its roles in immune modulation and inflammation make it a focus of therapeutic research.

APCS

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

ST18 (Suppression of Tumorigenicity 18): ST18 is a gene associated with tumor suppression and the regulation of inflammation. It may help control cell growth and modulate immune responses, aiding in the prevention of tumor development.

ST18

CNOT2 (CCR4-NOT Transcription Complex Subunit 2): CNOT2 is a part of the CCR4-NOT complex, which regulates gene expression by managing mRNA turnover and degradation. It plays a role in various aspects of RNA metabolism and can influence important cellular processes such as development, differentiation, and stress response.

CNOT2

COQ5 (Coenzyme Q5 Homolog, Methyltransferase): COQ5 (Coenzyme Q5 Homolog, Methyltransferase) is an enzyme involved in the biosynthesis of coenzyme Q (CoQ), a vital molecule for mitochondrial energy production. It catalyzes a key methylation step in the CoQ pathway. Mutations in COQ5 can lead to CoQ deficiency, affecting mitochondrial function and contributing to disorders of energy metabolism.

COQ5

INSR, or Insulin Receptor, is a transmembrane receptor protein that plays a key role in mediating the biological effects of insulin, a hormone involved in regulating glucose metabolism, lipid metabolism, and cellular growth. INSR is primarily located on the surface of target cells, such as adipocytes, hepatocytes, and skeletal muscle cells. Its main function is in insulin signaling pathways — when insulin binds to the extracellular domain of INSR, the receptor undergoes conformational changes that trigger autophosphorylation of tyrosine residues in its intracellular domain, activating its tyrosine kinase activity.

INSR

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

RNF220

APOB (Apolipoprotein B): APOB is a critical protein component of low-density lipoproteins (LDL), which carry cholesterol through the bloodstream. It primarily exists in two forms — APOB-48 and APOB-100, with APOB-100 being essential for the structure of LDL and its ability to bind to LDL receptors, facilitating cholesterol uptake by cells. Elevated levels of APOB-containing lipoproteins are associated with a higher risk of atherosclerosis and cardiovascular disease due to plaque accumulation in the arteries.

APOB

ZKSCAN5 (Zinc Finger with KRAB and SCAN Domains 5): ZKSCAN5 encodes a zinc finger protein that includes KRAB (Krüppel-associated box) and SCAN (SRE-ZBP, CTfin51, AW-1, and Number 18 cDNA) domains. These domains are crucial for transcriptional regulation and DNA binding. The specific functions of ZKSCAN5 are still being studied.

ZKSCAN5

GHRL (Ghrelin): GHRL is a gene that encodes ghrelin, a peptide hormone commonly known as the “hunger hormone.” Ghrelin targets the hypothalamus to stimulate appetite and increase food consumption. It plays a crucial role in starting meals and regulating body weight.

GHRL

PAM (Peptidylglycine Alpha-Amidating Monooxygenase): PAM is an enzyme that catalyzes the amidation of peptide hormones — a crucial step in the maturation of neuropeptides and peptide hormones. This process is vital for proper neurotransmitter synthesis and hormone activity. Dysregulation of PAM can impact neuropeptide function and disrupt hormonal signaling.

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

SLC30A8 (Solute Carrier Family 30 Member 8): SLC30A8 is a protein involved in zinc transport and insulin secretion from pancreatic beta cells. It plays a crucial role in maintaining glucose homeostasis and is considered a potential target for treating type 2 diabetes.

SLC30A8

TTC28 is a gene that encodes a protein containing tetratricopeptide repeat (TPR) domains, which facilitate protein-protein interactions. While its specific functions are not fully characterized, TTC28 may play a role in regulating transcription, the cell cycle, and protein transport. Ongoing research is investigating its potential involvement in cellular pathways and disease processes.

TTC28

GNB5 (G Protein Subunit Beta 5): GNB5 is a protein subunit of heterotrimeric G proteins, which mediate cellular responses to external signals via signal transduction pathways. It plays crucial roles in regulating heart rate, vision, and neurotransmission, functioning within both the central and peripheral nervous systems. Variants in GNB5 have been associated with arrhythmias and neurodevelopmental disorders, highlighting its importance in the study of signal transduction and related diseases.

GNB5

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

TTC6 (Tetratricopeptide Repeat Domain 6): TTC6 is a gene that encodes a protein containing tetratricopeptide repeat domains, which are known to facilitate protein-protein interactions. TTC6 is involved in various cellular processes, including protein trafficking and signaling pathways. Its exact functions in human physiology are still being studied.

TTC6

TBKBP1 (TANK-Binding Kinase 1 Binding Protein 1): TBKBP1 is a scaffold protein that plays a crucial role in regulating innate immunity and inflammatory responses. Also known as SINTBAD, it interacts with the kinases TBK1 and IKKε, contributing to antiviral defense and the production of type I interferons. TBKBP1’s role in modulating immune signaling pathways highlights its significance in immune function and its potential as a therapeutic target in inflammatory and autoimmune diseases.

TBKBP1

SAMM50 (Sorting and Assembly Machinery Component 50): SAMM50 is a gene that plays a critical role in mitochondrial biology. It is an essential part of the mitochondrial protein import and assembly machinery, ensuring the proper localization and function of proteins within the mitochondria. By supporting these processes, SAMM50 is vital for cellular energy production and overall mitochondrial function.

SAMM50

NSG2 (Neuron Specific Gene Family Member 2): NSG2 is a protein mainly expressed in the brain. It may play a role in neuronal development and function. Although its specific functions in neural processes are not fully understood, NSG2 is thought to contribute to synaptic plasticity and neuronal signaling, which can affect cognitive and sensory functions.

NSG2

ORMDL3 (ORMDL Sphingolipid Biosynthesis Regulator 3): ORMDL3 is a gene that controls the production of sphingolipids, essential components of cell membranes and signaling pathways. It helps regulate lipid balance within cells and affects inflammatory responses. Variations in ORMDL3 have been associated with an increased risk of asthma and allergic conditions, highlighting its role in immune regulation and inflammation.

ORMDL3

MCUR1 (Mitochondrial Calcium Uniporter Regulator 1): MCUR1 is a gene that regulates the mitochondrial calcium uniporter (MCU), a protein complex responsible for calcium uptake into mitochondria. MCUR1 plays a crucial role in maintaining proper mitochondrial calcium levels, which are vital for energy production, cell survival, and overall mitochondrial function.

MCUR1

AZIN2 (Antizyme Inhibitor 2): AZIN2 is a protein that regulates the activity of ornithine decarboxylase, a key enzyme involved in polyamine biosynthesis. It works by inhibiting antizyme, which normally suppresses ornithine decarboxylase. Polyamines are essential for cell growth and differentiation, and abnormalities in their metabolism—potentially affected by AZIN2—have been associated with cancer because of their role in cell proliferation.

AZIN2

GPR158 (G Protein-Coupled Receptor 158): GPR158 is a member of the G protein-coupled receptor (GPCR) family and is involved in various physiological processes, including neuronal development and the regulation of mood and behavior. It has been linked to mental health disorders such as depression and anxiety, underscoring its importance in brain function and emotional regulation.

GPR158

USP47 (Ubiquitin Specific Peptidase 47): USP47 is an enzyme that removes ubiquitin from ubiquitinated proteins, helping regulate their degradation. It plays key roles in DNA repair, cell cycle control, and signal transduction by preserving protein stability. Dysregulation of USP47 has been linked to various cancers and other diseases, influencing processes like cell growth and programmed cell death.

USP47

HLA-DQA2 (Human Leukocyte Antigen DQ Alpha 2): HLA-DQA2 is a gene within the HLA complex that plays a key role in regulating the immune system through antigen presentation. It encodes an alpha chain that pairs with a beta chain to form the HLA-DQ molecule, which presents foreign antigens to T cells to initiate immune responses. Variations in HLA-DQA2 are associated with susceptibility to certain autoimmune diseases, underscoring its importance in immune tolerance and autoimmunity.

HLA-DQA2

TENM4 (Teneurin Transmembrane Protein 4): TENM4 is part of the teneurin family and plays a role in neuronal development and function. It is crucial for cell-to-cell adhesion and communication within the nervous system and has been linked to developmental processes and neurological disorders.

TENM4

PRKG1 (Protein Kinase, cGMP-Dependent, Type I): PRKG1 is a gene that encodes a serine/threonine-specific protein kinase, serving as a key effector in cyclic guanosine monophosphate (cGMP) signaling. It plays a crucial role in regulating vascular smooth muscle tone, platelet function, and cardiac contractility, thereby supporting cardiovascular homeostasis. Through phosphorylation of target proteins, PRKG1 impacts processes such as smooth muscle relaxation, protection from myocardial injury, and inhibition of platelet aggregation; its activity is closely associated with cardiovascular health and disease.

PRKG1

NANOS1 (Nanos C2HC-Type Zinc Finger 1): NANOS1 is a protein that acts as a post-transcriptional regulator, playing a crucial role in germ cell development. It is vital for maintaining the viability of germ cells and has been associated with research on infertility and germ cell tumors.

NANOS1

GOLT1A (Golgi transport 1A protein) is a member of the Golgi transport family that plays a role in regulating vesicular trafficking within cells, particularly in the Golgi apparatus. The Golgi apparatus is a key organelle responsible for processing, sorting, and modifying proteins and lipids from the endoplasmic reticulum (ER) before directing them to their final destinations. Although specific information on GOLT1A is limited, proteins in this family generally help mediate the movement of cargo vesicles between Golgi compartments and between the Golgi apparatus and other cellular locations.

GOLT1A

PEX2 (Peroxisomal Biogenesis Factor 2): PEX2 is a gene crucial for the formation and maintenance of peroxisomes—cellular organelles involved in lipid metabolism and the detoxification of reactive oxygen species. Mutations in PEX2 can lead to peroxisomal disorders, such as Zellweger syndrome, which is characterized by severe developmental and neurological impairments.

PEX2

TBX3 (T-Box Transcription Factor 3): TBX3 is a transcription factor that plays a crucial role in embryonic development, regulating organ formation including limbs, heart, and mammary glands. Mutations or misregulation of TBX3 can lead to developmental disorders such as ulnar-mammary syndrome. It is also involved in cancer, where it may function as a transcriptional repressor to block cell senescence and promote cell proliferation.

TBX3

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FBXO21

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Tests containing this item