C-KIT is a tyrosine receptor kinase expressed in various cell types during development and it has been linked to the promotion of cellular migration, proliferation and/or survival of melanoblasts, hematopoietic progenitors and primordial germ cells. Several reports have proposed a role for the c-kit gene on carcinogenesis. Gain-of-function mutations are associated with diseases such as mastocytosis and gastrointestinal stromal tumors among others.

Mutations on c-KIT gene that cause constitutive activation of the tyrosine kinase function of c-KIT are detectable in most gastrointestinal stromal tumours (GISTs).