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.
Aliases: MI; WS2; CMM8; WS2A; bHLHe32
Entrez GeneID : 4286
Swissprot: O75030
WB Predicted band size : 58.8kDa
Host/Isotype : Mouse IgG1
Species Reactivity : Human
Immunogen: Purified recombinant fragment of human MITF (AA: 1-114) expressed in E. Coli.
