MITF,BHLHE32,Microphthalmia-associated transcription factor,Class E basic helix-loop-helix protein 32,bHLHe32
Cell localization:Nuclear.This gene encodes a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. It regµLates 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, JµL 2008],
