| Gene Symbol |
MITF
|
| Gene Synonyms |
MI WS2 CMM8 WS2A COMMAD MITF-A bHLHe32 |
| Gene Full Name |
melanocyte inducing transcription factor |
| Gene 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] |
| Alternative Names |
BHLHE32 bHLHe32 Class E basic helix-loop-helix protein 32 CMM8 Homolog of mouse microphthalmia Mi Microphthalmia associated transcription factor Microphthalmia mouse homolog of Microphthalmia-associated transcription factor MITF MITF_HUMAN mitfa nacre WS2 WS2A z3A.1 |
| Molecular Weight(MW) |
59 kDa |
| Cellular Localization |
Cytoplasm,Lysosome,Membrane,Nucleus. |