Overview:

c-KIT is a proto-oncogene and a type 3 transmembrane receptor for MGF (mast cell growth factor, also known as stem cell factor). c-KIT was first identified as the cellular homolog of the feline sarcoma viral oncogene v-kit. c-KIT together with its ligand regulates growth and activation of a variety of hematopoietic and non-hematopoietic cells. Mutations in c-KIT are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous leukemia, and piebaldism. Recently, deregulation of the KIT receptor TK by the prevalent activation loop mutation D816V has served as a focal point in therapeutic strategies aimed curbing neoplastic mast cell growth (2).

References:

1. Berger, S A.: Signaling pathways influencing SLF and c-kit-mediated survival and proliferation. Immunol Res. 2006;35(1-2):1-12.

2. Gotlib, J.: KIT mutations in mastocytosis and their potential as therapeutic targets. Immunol Allergy Clin North Am. 2006 Aug;26(3):575-92.

3. Beghini,A., Larizza,L., Cairoli,R.et,al. c-kit activating mutations and mast cell proliferation in human leukemia. Blood. 1998; 92 (2):701-702.