Overview:

c-KIT (T670E) is the human homolog of the proto-oncogene c-kit which was first identified as the cellular homolog of the feline sarcoma viral oncogene v-kit. c-KIT (T670E) is a type 3 transmembrane receptor for MGF (mast cell growth factor, also known as stem cell factor). c-KIT (T670E) function in hematopoiesis, melanogenesis, and gametogenesis (1) and mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous lukemia, and piebaldism. c-KIT (T670E) signaling is involved in human skin pigmentation and that this signaling pathway is regulated by sKIT (2). It is also help in regulating primordial germ cell growth.

Gene Aliases:

PBT, SCFR, CD117

Genbank Number:

NM_000222

References:

1. Rothschild, G. et.al: A role for Kit receptor signaling in Leydig cell steroidogenesis. Biol. Reprod. 69: 925-932, 2003.2. Kasamatsu, S. et.al: Production of the soluble form of KIT, s-KIT, abolishes stem cell factor-induced melanogenesis in human melanocytes. J. Invest. Derm. 128: 1763-1772, 2008.