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mitf

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Official Full Name
microphthalmia-associated transcription factor
Background
This gene 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. [provided by RefSeq, Jul 2008]
Synonyms
MITF; microphthalmia-associated transcription factor; MI; WS2; CMM8; WS2A; bHLHe32; class E basic helix-loop-helix protein 32; Waardenburg syndrome, type 2A , WS2, WS2A; homolog of mouse microphthalmia; MITF
 CMI9