c-KIT (D816Y), Active

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 hemopoietic and non-hemopoietic cells. Mutations in c-KIT are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous lukemia, 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 at curbing neoplastic mast cell growth (2).