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il6r

il6r

his gene encodes a subunit of the interleukin 6 (IL6) receptor complex. Interleukin 6 is a potent pleiotropic cytokine that regulates cell growth and differentiation and plays an important role in the immune response. The IL6 receptor is a protein complex consisting of this protein and interleukin 6 signal transducer (IL6ST/GP130/IL6-beta), a receptor subunit also shared by many other cytokines. Dysregulated production of IL6 and this receptor are implicated in the pathogenesis of many diseases, such as multiple myeloma, autoimmune diseases and prostate cancer. Alternatively spliced transcript variants encoding distinct isoforms have been reported. A pseudogene of this gene is found on chromosome 9.

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77 views • 7 slides
activin A receptor, type I

activin A receptor, type I

Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta);superfamily of structurally related signaling proteins.

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81 views • 7 slides
neurotrophic tyrosine kinase, receptor, type 1

neurotrophic tyrosine kinase, receptor, type 1

This gene encodes a member of the neurotrophic tyrosine kinase receptor (NTKR) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway.

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platelet-derived growth factor receptor, alpha polypeptide

platelet-derived growth factor receptor, alpha polypeptide

This gene encodes a member of a subfamily of non-clustered, diverged, antennapedia-like homeobox-containing genes.

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63 views • 6 slides
gpt

gpt

This gene encodes cytosolic alanine aminotransaminase 1 (ALT1); also known as glutamate-pyruvate transaminase 1. This enzyme catalyzes the reversible transamination between alanine and 2-oxoglutarate to generate pyruvate and glutamate and, therefore, plays a key role in the intermediary metabolism of glucose and amino acids. Serum activity levels of this enzyme are routinely used as a biomarker of liver injury caused by drug toxicity, infection, alcohol, and steatosis. A related gene on chromosome 16 encodes a putative mitochondrial alanine aminotransaminase.

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74 views • 5 slides
ppia

ppia

This gene encodes a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. The encoded protein is a cyclosporin bindingprotein and may play a role in cyclosporin A-mediated immunosuppression. The protein can also interact with several HIV proteins, including p55 gag, Vpr, and capsid protein, and has been shown to be necessary for the formation of infectious HIV virions. Multiple pseudogenes that map to different chromosomes have been reported. [provided by RefSeq, Jul 2008]

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smarca4

smarca4

The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. Mutations in this gene cause rhabdoid tumor predisposition syndrome type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

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thbs1

thbs1

The protein encoded by this gene is a subunit of a disulfide-linked homotrimeric protein. This protein is an adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. This protein can bind to fibrinogen, fibronectin, laminin, type V collagen and integrins alpha-V/beta-1. This protein has been shown to play roles in platelet aggregation, angiogenesis, and tumorigenesis. [provided by RefSeq, Jul 2008]

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wingless-type MMTV integration site family, member 5A

wingless-type MMTV integration site family, member 5A

The Wnt family includes several secreted glycoproteins that play important roles in animal development.

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neurotrophic tyrosine kinase, receptor, type 2

neurotrophic tyrosine kinase, receptor, type 2

This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway.

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54 views • 5 slides
mybpc3

mybpc3

MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosinbinding protein C is a myosin-associated protein found in the crossbridge-bearing zone (C region) of A bands in striated muscle. MYBPC3, the cardiac isoform, is expressed exclussively in heart muscle. Regulatory phosphorylation of the cardiac isoform in vivo by cAMPdependent protein kinase (PKA) upon adrenergic stimulation may be linked to modulation of cardiac contraction. Mutations in MYBPC3 are one cause of familial hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008] ?

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spam1

spam1

Hyaluronidase degrades hyaluronic acid, a major structural proteoglycan found in extracellular matrices and basement;membranes. Six members of the hyaluronidase family are clustered into two tightly linked groups on chromosome 3p21.3;and 7q31.3. This gene was previously referred to as HYAL1 and HYA1 and has since been assigned the official symbol;SPAM1; another family member on chromosome 3p21.3 has been assigned HYAL1. This gene encodes a GPI-anchored enzyme;located on the human sperm surface and inner acrosomal membrane. This multifunctional protein is a hyaluronidase that;enables sperm to penetrate through the hyaluronic acid-rich cumulus cell layer surrounding the oocyte, a receptor that;plays a role in hyaluronic acid induced cell signaling, and a receptor that is involved in sperm-zona pellucida;adhesion. Abnormal expression of this gene in tumors has implicated this protein in degradation of basement membranes;leading to tumor invasion and metastasis. Multiple transcript variants encoding different isoforms have been found for;this gene.

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ADAM metallopeptidase domain 17

ADAM metallopeptidase domain 17

This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family.

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nuclear mitotic apparatus protein 1

nuclear mitotic apparatus protein 1

Nuclear matrix proteins (NMPs) make up the internal structural framework of the nucleus and are associated with such functions as DNA replication, RNA synthesis, and hormone receptor binding.

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WAS protein family, member 2

WAS protein family, member 2

WAS protein family, member 2

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Official Full Name glucose-6-phosphate dehydrogenase

Official Full Name glucose-6-phosphate dehydrogenase

Official Full Name glucose-6-phosphate dehydrogenase

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growth hormone receptor

growth hormone receptor

growth hormone receptor ;growth hormone receptor

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Official Full Name Frataxin

Official Full Name Frataxin

Official Full Name Frataxin ;Official Full Name Frataxin ;Official Full Name Frataxin Official Full Name Frataxin

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glucosidase, beta, acid

glucosidase, beta, acid

glucosidase, beta, acid ;glucosidase, beta, acid

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growth differentiation factor 2

growth differentiation factor 2

growth differentiation factor 2 ;growth differentiation factor 2 ;growth differentiation factor 2

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