| C10orf137 |
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| - |
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| - |
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| PRDM12 |
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May function as a transcription factor.
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| SH3GLP1 |
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| - |
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| - |
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| ZNF669 |
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| - |
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| C14orf70 |
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| SCMH1 |
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Probable Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive …
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| - |
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| ADARB2 |
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RNA-editing deaminase-2 (RED2, or ADARB2) is a member of the double-stranded RNA (dsRNA) adenosine deaminase family of RNA-editing enzymes. Adenosine …
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| C21orf84 |
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| SLC6A4 |
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This gene encodes an integral membrane protein that transports the neurotransmitter serotonin from synaptic spaces into presynaptic neurons. The encoded …
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| ARRB1 |
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Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of …
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| NLGN4Y |
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Neuroligins, such as NLGN4Y, are cell adhesion molecules present at the postsynaptic side of the synapse and may be essential …
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| - |
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| VIPR2 |
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Vasoactive intestinal peptide (VIP; MIM 192320) and pituitary adenylate cyclase activating polypeptide (PACAP; MIM 102980) are homologous peptides that function …
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| C6orf114 |
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| C14orf58 |
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Transporter specific for a calcium-chelator complex, important for growth and calcium metabolism.
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| HLA-DRB1 |
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HLA-DRB1 belongs to the HLA class II beta chain paralogues. The class II molecule is a heterodimer consisting of an …
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| SALL3 |
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| ATP8B4 |
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| SP1 |
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Binds to GC box promoters elements and selectively activates mRNA synthesis from genes that contain functional recognition sites. Can interact …
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| C10orf12 |
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| C14orf8 |
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| FKBP5 |
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The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation …
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| - |
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| - |
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| HSD3B1 |
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3beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. The …
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| - |
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| HAO1 |
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This gene is one of three related genes that have 2-hydroxyacid oxidase activity yet differ in encoded protein amino acid …
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| C9orf109 |
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| - |
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| INSAF |
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| GCLM |
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Glutamate-cysteine ligase, also known as gamma-glutamylcysteine synthetase, is the first rate limiting enzyme of glutathione synthesis. The enzyme consists of …
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| TTL |
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TTL is a cytosolic enzyme involved in the posttranslational modification of alpha-tubulin (see MIM 602529). Alpha-tubulin within assembled microtubules is …
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| ARFRP2 |
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| MYL1 |
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Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, …
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| ENDOG |
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The protein encoded by this gene is a nuclear encoded endonuclease that is localized in the mitochondrion. The encoded protein …
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| IFI35 |
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Not yet known.
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| C22orf16 |
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| ALS2CR13 |
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| C21orf37 |
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| PEX12 |
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The peroxisome biogenesis disorders (PBDs; MIM 601539) are a group of genetically heterogeneous diseases that are usually lethal in early …
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| - |
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| PANX1 |
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The protein encoded by this gene belongs to the innexin family. Innexin family members are the structural components of gap …
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| KPNA3 |
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The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex …
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| SURF4 |
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This gene is located in the surfeit gene cluster, which is comprised of very tightly linked housekeeping genes that do …
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| SPRR2G |
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| ARHGEF6 |
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Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G …
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| C10orf125 |
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| SECTM1 |
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This gene encodes a transmembrane and secreted protein with characteristics of a type 1a transmembrane protein. It is found in …
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| NXT1 |
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The protein encoded by this gene is located in the nuclear envelope. It has protein similarity to nuclear transport factor …
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| IQCA |
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| ART3 |
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| MBD3 |
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DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, …
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| EMR1 |
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This gene encodes a protein that has a domain resembling seven transmembrane G protein-coupled hormone receptors (7TM receptors) at its …
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| TIAL1 |
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The protein encoded by this gene is a member of a family of RNA-binding proteins and possesses nucleolytic activity against …
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| - |
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| KLK2 |
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Glandular kallikreins cleave Met-Lys and Arg-Ser bonds in kininogen to release Lys-bradykinin.
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| - |
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| PLAC9 |
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| PPFIBP1 |
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The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with …
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| EXOSC1 |
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This gene encodes a core component of the exosome. The mammalian exosome is required for rapid degradation of AU rich …
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| TLK2 |
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The Tousled-like kinases, first described in Arabidopsis, are nuclear serine/threonine kinases that are potentially involved in the regulation of chromatin …
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| ACVR2A |
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This gene encodes activin A type II receptor. Activins are dimeric growth and differentiation factors which belong to the transforming …
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| - |
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| C11orf32 |
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This gene encodes a protein that belongs to the families of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins, of …
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| MAML3 |
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| CKS2 |
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CKS2 protein binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function. The …
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| - |
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The protein encoded by this gene is a phosphoprotein that binds to the sodium-potassium exchangers (NHEs). This protein serves as …
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| POU2AF1 |
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Transcriptional coactivator that specifically associates with either OCT1 or OCT2. Its boost the OCT-1 mediated promoter activity and to a …
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| - |
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View
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| CDC14C |
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View
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| NME6 |
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The nucleoside diphosphate (NDP) kinases (EC 2.7.4.6) are ubiquitous enzymes that catalyze transfer of gamma-phosphates, via a phosphohistidine intermediate, between …
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View
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| GSTM4 |
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Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of …
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| - |
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| - |
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View
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| - |
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| MASTL |
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Putative serine/threonine kinase which may be involved in megakaryocyte differentiation.
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| TMPRSS12 |
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View
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| - |
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View
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| NFIL3 |
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| CHRM5 |
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The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is …
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View
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| - |
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View
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| ATP1B4 |
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This is the non-catalytic component of a yet unknown soduium or proton exchange ATPase.
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| ZNF479 |
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May be involved in transcriptional regulation.
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View
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| CDKAL1 |
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| TXNRD1 |
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This gene encodes a member of a family of pyridine nucleotide oxidoreductases. This protein reduces thioredoxins as well as other …
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| UTS2R |
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| - |
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| NKX2-8 |
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| NDUFC2 |
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Transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be …
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| C9orf7 |
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| PDIA5 |
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| - |
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| PHLDA1 |
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Pleckstrin homology domains bind polyphosphoinositides and are involved in platelet cytoskeletal changes. This gene contains a (CAG)n trinucleotide repeat which …
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View
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| ARG1 |
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Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exist (types I …
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View
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| FY |
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Non-specific receptor for many chemokines such as IL-8, GRO, RANTES, MCP-1 and TARC. It is also the receptor for the …
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| CLCA1 |
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The protein encoded by this gene belongs to the calcium sensitive chloride conductance protein family. To date, all members of …
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| KRTDAP |
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| C12orf9 |
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| AEBP1 |
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The adipocyte enhancer binding protein 1 is a transcriptional repressor with carboxypeptidase (CP) activity. This protein binds to a regulatory …
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View
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| BVES |
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This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed …
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| SLN |
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| MCART6 |
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| C1orf16 |
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| - |
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| C10orf132 |
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| GABPB2 |
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This gene encodes the GA-binding protein transcription factor, beta subunit. This protein forms a tetrameric complex with the alpha subunit, …
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| RNF141 |
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The protein encoded by this gene contains a RING finger, a motif known to be involved in protein-DNA and protein-protein …
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| HRC |
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Histidine-rich calcium-binding protein is a luminal sarcoplasmic reticulum protein of 165 kD identified by its ability to bind low-density lipoprotein …
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| GABRR1 |
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GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride …
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View
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| - |
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View
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| - |
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| APOF |
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The product of this gene is one of the minor apolipoproteins found in plasma. This protein forms complexes with lipoproteins …
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| PRSS21 |
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This gene encodes a cell-surface anchored serine protease, which is a member of the trypsin family of serine proteases. It …
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| GAD1 |
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This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The …
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View
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| ETV7 |
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Transcriptional repressor; binds to the DNA sequence 5'- CCGGAAGT-3'. Isoform A and isoform C do not seem to have a …
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View
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| - |
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-
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View
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| KLK4 |
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Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in …
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View
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| PSMB2 |
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The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed …
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View
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| ZNF165 |
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This gene encodes a member of the Kruppel family of zinc finger proteins. Members of this DNA-binding protein family act …
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| SP6 |
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SP6 belongs to a family of transcription factors that contain 3 classical zinc finger DNA-binding domains consisting of a zinc …
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View
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| - |
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-
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View
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| DCTN3 |
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This gene encodes the smallest subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 …
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| GPR63 |
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G protein-coupled receptors (GPCRs, or GPRs) contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins.[supplied by OMIM]
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View
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| OGFR |
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The protein encoded by this gene is a receptor for opioid growth factor (OGF), also known as [Met(5)]-enkephalin. OGF is …
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View
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| - |
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-
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View
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| C20orf141 |
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View
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| EIF4ENIF1 |
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The protein encoded by this gene is a nucleocytoplasmic shuttle protein for the translation initiation factor eIF4E. This shuttle protein …
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| HLCS |
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Holocarboxylase synthetase (EC 6.3.4.10) covalently links biotin to propionyl-CoA carboxylase (PCCA; MIM 232000), pyruvate carboxylase (PC; MIM 608786), alpha-methylcrotonyl-CoA carboxylase …
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| - |
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-
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| - |
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View
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| - |
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| PMCHL1 |
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| CCT4 |
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Molecular chaperone; assist the folding of proteins upon ATP hydrolysis. Known to play a role, in vitro, in the folding …
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View
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| GPR92 |
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G protein-coupled receptors (GPCRs, or GPRs) contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins.[supplied by OMIM]
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View
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| - |
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View
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| - |
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| ANAPC11 |
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Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the …
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View
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| HADHB |
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The HADHA (MIM 600890) and HADHB genes encode the alpha and beta subunits of the mitochondrial trifunctional protein, respectively. The …
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View
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| - |
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-
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| GPAA1 |
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Posttranslational glycosylphosphatidylinositol (GPI) anchor attachment serves as a general mechanism for linking proteins to the cell surface membrane. The protein …
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View
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| C20orf102 |
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View
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| ZNF394 |
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View
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| RABL5 |
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| LARS |
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| FBXW4 |
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This gene is a member of the F-box/WD-40 gene family, which recruit specific target proteins through their WD-40 protein-protein binding …
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View
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| - |
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-
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View
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| IBRDC2 |
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Acts as an E3 ubiquitin ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and then transfers it to substrates …
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View
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| RPS4Y1 |
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Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these …
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View
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| - |
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-
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View
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| BOLL |
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This gene belongs to the DAZ gene family required for germ cell development. It encodes an RNA-binding protein which is …
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View
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| C6orf149 |
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-
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View
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| - |
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-
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View
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| ACTL8 |
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-
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View
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| C14orf152 |
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-
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View
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| - |
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-
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View
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| KCNC2 |
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The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on …
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| BMS1L |
- |
|
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May act as a molecular switch during maturation of the 40S ribosomal subunit in the nucleolus (By similarity).
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View
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| - |
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-
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View
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| C21orf77 |
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View
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| - |
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-
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View
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| NUP98 |
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Signal-mediated nuclear import and export proceed through the nuclear pore complex (NPC), which is comprised of approximately 50 unique proteins …
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View
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| - |
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-
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View
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| SEC24B |
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The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved …
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View
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| - |
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-
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View
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| - |
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View
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| - |
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View
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| - |
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| DGCR2 |
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Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal …
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View
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| MAP4K1 |
- |
|
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May play a role in the response to environmental stress. Appears to act upstream of the JUN N-terminal pathway. May …
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View
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| - |
- |
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-
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View
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| - |
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-
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View
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| ZNF644 |
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|
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May be involved in transcriptional regulation.
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View
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| PDE7A |
- |
|
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Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. This phosphodiesterase is highly specific for …
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View
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| EFNA2 |
- |
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This gene encodes a member of the ephrin family. The protein is composed of a signal sequence, a receptor-binding region, …
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View
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| - |
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-
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View
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| NUBP2 |
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| TBCE |
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Cofactor E is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly …
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View
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| - |
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-
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View
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| IGFBP6 |
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| DEPDC1 |
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| - |
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View
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| - |
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| INPP1 |
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INPP1 encodes the enzyme inositol polyphosphate-1-phosphatase, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the the …
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View
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| MCM7 |
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The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for …
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View
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| - |
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View
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| - |
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-
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View
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| SS18L2 |
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Synovial sarcomas occur most frequently in the extremities around large joints. More than 90% of cases have a recurrent and …
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View
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| - |
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-
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View
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| SDCBP2 |
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| CD9 |
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The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. …
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View
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| WDR53 |
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This gene encodes a protein containing WD domains. The function of this gene is unknown.
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