Microphthalmia-associated transcription factor

MITF ( microphthalmia -associated transcription factor ) is a protein found in vertebrates, it is associated with tyrosinase and TRP -1 transcription factor. MITF binds to the DNA sequences 5'- CACGTG -3 ' or 5'- CATGTG -3', the so-called E-box. Ten human paralogs of MITF isoforms are known, which are located in different tissue types. MITF plays a crucial role in the differentiation of several tissues. Mutations of the MITF gene can lead to various forms of leucism and spotting. In addition, malformations occur on the eyes. In humans, mutations in the MITF gene can cause the Tietz syndrome or Waardenburg syndrome.

In addition, the MITF gene in metastatic melanoma is activated in 10-16 % of cases. However, the exact role of MITF in melanoma development and progression is still unclear.

Protein isoform Human Genome Organisation Cellular differentiation Piebald
570372
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