Gene Symbol | KIT |
Entrez Gene ID | 3815 |
Full Name | KIT proto-oncogene receptor tyrosine kinase |
Synonyms | C-Kit,CD117,PBT,SCFR |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Piebaldism, 172800 (3); Gastrointestinal stromal tumor, familial, 606764 (3); Mast cell disease, 154800 (3); Leukemia, acute myeloid, 601626 (3); Germ cell tumors, somatic, 273300 (3) |