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.
