Entrez gene ID | | 4286 |
Official gene symbol | | MITF |
Full name | | microphthalmia-associated transcription factor |
Aliases | | ,MI,WS2A,bHLHe32, |
Gene summary | | 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] |
Location | | Chromosome: 3 Locus: 3p14.2-p14.1 |
Gene position | | 69788586 - 70017488 Map Viewer |
Gene orientation | | plus |
Gene size | | 228903 bp |
Gene sequence |
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OMIM ID | | 156845 |
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