C-Kit (KIT) Antibody – Mouse Monoclonal

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]

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).

Catalytic activity: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.

Subunit structure: Interacts with APS. Interacts with MPDZ (via the tenth PDZ domain). Interacts with PTPRU. Ref.7 Ref.8 Ref.9

Subcellular location: Membrane; Single-pass type I membrane protein.

Involvement in disease: Defects in KIT are a cause of piebald trait (PBT) [

MIM:172800]. PBT is an autosomal dominant genetic developmental abnormality of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes. Ref.13 Ref.14 Ref.15 Ref.17 Ref.18 Ref.19 Ref.20 Ref.22 Ref.27Defects in KIT are a cause of gastrointestinal stromal tumor (GIST) [

MIM:606764]. Ref.19 Ref.23 Ref.24 Ref.28 Ref.29Defects in KIT have been associated with testicular tumors (TEST) [

MIM:273300]. A common solid malignancy in males. Germ cell tumors of the testis constitute 95% of all testicular neoplasms. Ref.19

Sequence similarities: Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.Contains 5 Ig-like C2-type (immunoglobulin-like) domains.Contains 1 protein kinase domain.