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The KIT gene at 4q12 codes for Mast/stem cell growth factor receptor Kit (CD117). This is also known as c-kit or KIT receptor amongst a multitude of other names. It is a 976 amino acid transmembrane signalling protein with tyrosine kinase activity and acts as the receptor for cytokine stem cell factor (mast cell growth factor). Over activity of the receptor with its interactions with over 50 downstream proteins can be very bad news and is associated with many malignancies.

It is present in normal tissues including:[1]

  • haematopoeitic precursors
  • mast cells
  • interstitial cells of Cajal
  • germ cells
  • melanocytes.

Abnormal staining which may be related sometimes to KIT mutations can be found in:

Most variants can be inhibited with imatinib and indeed multiple tyrosine kinase inhibitors have been developed to target it.

Some mutations of KIT cause Piebald trait (PBT, OMIM:172800) which is an autosomal dominant abnormality of pigmentation with patches of white skin and hair that lack melanocytes.

Mutations of KIT are also characteristically found in several tumours including:


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