This protein 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. c-Kit 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.
