Microphthalmia Associated Transcription Factor (MITF)

MITF encodes a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. It regulates the differentiation and development of melanocytes retinal pigment epithelium and is also responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified.

The deduced MITF-C protein contains 519 amino acids and has a calculated molecular mass of 58.0 kD. Like the other MITF isoforms, MITF-C has a unique N terminus, and it does not have the 6-amino acid insertion found in MITF-M. .