C-Kit Rabbit Polyclonal Antibody

This gene encodes the human homolog of the proto-oncogene c-kit. C-kit was first identified as the cellular homolog of the feline sarcoma viral oncogene v-kit. This protein is a type 3 transmembrane receptor for MGF (mast cell growth factor, also known as stem cell factor) . Mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous lukemia, and piebaldism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008], catalytic activity:ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate., disease:Defects in KIT are a cause of gastrointestinal stromal tumor (GIST) [MIM:606764]., disease:Defects in KIT are a cause of piebaldism [MIM:172800]. Piebaldism is an autosomal dominant genetic developmental abnormality of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes., disease:Defects in KIT have been associated with testicular tumors [MIM:273300]. It includes germ cell tumor (GCT) or testicular germ cell tumor (TGCT) ., function:This is the receptor for stem cell factor (mast cell growth factor) . It has a tyrosine-protein kinase activity. Binding of the ligands leads to the autophosphorylation of KIT and its association with substrates such as phosphatidylinositol 3-kinase (Pi3K) ., online information:CD117 entry, similarity:Belongs to the protein kinase superfamily. Tyr protein kinase family., similarity:Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily., similarity:Contains 1 protein kinase domain., similarity:Contains 5 Ig-like C2-type (immunoglobulin-like) domains., subunit:Interacts with APS. Interacts with MPDZ (via the tenth PDZ domain) . Interacts with PTPRU.

KIT; SCFR; Mast/stem cell growth factor receptor Kit; SCFR; Piebald trait protein; PBT; Proto-oncogene c-Kit; Tyrosine-protein kinase Kit; p145 c-kit; v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog; CD antigen CD117