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Official Full Name: melanocyte inducing transcription factor
Also known as: MI; WS2; CMM8; WS2A; COMMAD; MITF-A; bHLHe32
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.