Gene KIT
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Also known as
CD117, c-Kit, stem cell factor receptor, mast cell growth factor receptorOverview
KIT (KIT Proto-Oncogene, Receptor Tyrosine Kinase) encodes a receptor tyrosine kinase that, upon binding its ligand stem cell factor (SCF), promotes cell survival, proliferation, and differentiation. KIT signaling is essential for the development of melanocytes, mast cells, interstitial cells of Cajal, and germ cells.Germline KIT mutations cause piebaldism (patches of white skin and hair due to absence of melanocytes) and familial gastrointestinal stromal tumor (GIST) syndrome. Somatic activating mutations in KIT are found in many GISTs, mastocytosis, and acute myeloid leukemia. These mutations make cells sensitive to tyrosine kinase inhibitors like imatinib. KIT variants also influence skin pigmentation and sun sensitivity.
Understanding your KIT genetic status provides insights into mast cell biology, pigmentation, and potential cancer susceptibility. This information is relevant for understanding allergic/mast cell conditions and can guide targeted cancer therapy selection.