Gene Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Gene Symbol MITF
Synonyms bHLHe32 | CMM8 | COMMAD | MI | MITF-A | WS2 | WS2A
Gene Description MITF, melanocyte inducing transcription factor, encodes for a transcription factor that plays a key role in the development, differentiation, and survival of melanocytes, and transcription of the HIF1A gene (PMID: 23207919, PMID: 22012259). MITF amplification has been observed in melanoma while MITF mutations, in particular germline mutations, may increase the risk for melanoma and renal cancer (PMID: 25433395, PMID: 22012259, PMID: 32249949).
Additional content available in CKB BOOST