Gene Symbol | MITF |
Entrez Gene ID | 4286 |
Full Name | melanogenesis associated transcription factor |
Synonyms | CMM8,COMMAD,MI,WS2,WS2A,bHLHe32 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Aug 2017]. |
Disorder MIM: | |
Disorder Html: | Waardenburg syndrome, type 2A, 193510 (3); Waardenburg syndrome/ocular albinism, digenic, 103470 (3); Tietz albinism-deafness syndrome, 103500 (3); {Melanoma, cutaneous malignant, susceptibility to, 8}, 614456 (3); COMMAD syndrome, 617306 (3) |