This gene encodes the human homolog of the proto-oncogene c-kit. C-kit was first identified as the cellular homolog of the feline sarcoma viral oncogene v-kit. This protein is a type 3 transmembrane receptor for MGF (mast cell growth factor, also known as stem cell factor). Mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous lukemia, and piebaldism. Multiple transcript variants encoding different isoforms have been found for this gene.

Reference: http://www.ncbi.nlm.nih.gov/gene/3815

Assay type: High resolution melting/Sanger Sequencing
What is analyzed: Mutational analysis of exons 8, 9, 11, 13, 14, 15, 17
Platform: LightCycler 480 (Roche), Genetic Analyzer 3500 (ABI)
Kit/antibody: High Resolution Melting Master (Roche); Big Dye Terminator v1.1 Cycle Sequencing Kit (ABI)
Tissue Type: GIST, Melanoma
Required material: FFPE tissue; DNA