a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. Plays a critical role in the differentiation of various cell types including neural crest- derived melanocytes, mast cells, osteoclasts and optic cup-derived retinal pigment epithelium. Two isoforms are known: the M-isoform is expressed exclusively in melanocytes, while the A-isoform has a much broader range of expression. Mutations in MITF can lead to Waardenburg syndrome. Ten alternatively spliced isoforms have been described. Note: This description may include information from UniProtKB.
Protein type: DNA-binding; Oncoprotein; Transcription factor
Biological Process: melanocyte differentiation; negative regulation of transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; protein complex assembly; protein sumoylation