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C-KIT Gene
Definition and Synonyms

Definition: A cloned gene for Familial Gastrointestinal Stromal Tumor, the 70 kb human C-KIT Gene (CSF1R/PDGFR family) at 4q12 encodes a transmembrane receptor tyrosine kinase for SCF. It is critical in pluripotent hematopoietic stem cell development, migrating embryonic melanoblasts, and primordial germ cells. Located within 700 kb of PDGFRA, c-KIT includes twenty-one exons and is alternatively spliced; the longest transcript is 5.2 kb. The overall gene structure resembles that of CSF1R. (from SWISS-PROT, OMIM, and NCI)

Synonyms: KIT Gene, C-KIT, CD117, KIT, SCF Receptor Gene, SCFR, Stem Cell Factor Receptor Gene

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