Transcription factor for tyrosinase and tyrosinase-related protein 1. Binds to a symmetrical DNA sequence (E-boxes) (5'-CACGTG-3') found in the tyrosinase promoter. Plays a critical role in the differentiation of various cell types as neural crest-derived melanocytes, mast cells, osteoclasts and optic cup-derived retinal pigmant epithelium. This protein is 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 syndrom type 2 and Tietz syndrome. Alternateively spliced transcript variants encoding different isoforms have been identified.
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Protein Aliases: bHLHe32; black eyed white; Class E basic helix-loop-helix protein 32; MI; microphtalmia-associated transcription factor; Microphthalmia-associated transcription factor; MITF; WS2A
Gene Aliases: BCC2; BHLHE32; Bw; CMM8; Gsfbcc2; MI; MITF; Vit; Vitiligo; Wh; WS2; WS2A