The protein encoded by this gene is a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. The encoded protein regulates melanocyte development and is 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.
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Western blot analysis of extracts on PC-12, A431 cell lysates, using MITF Rabbit Monoclonal Antibody (EAB22141) at 1:1000 dilution. Secondary antibody Goat Anti-Rabbit IgG (H&L)-HRP (EAB21002) at 1:5000 dilution.