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Human KIT wild-type allele is located within 4q11-q12 and is approximately 83 kb in length. This allele, which encodes mast/stem cell growth factor receptor protein, plays a role in the mediation of transmembrane-receptor interactions. Mutations in the gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous leukemia, and piebaldism.
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