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.    

FCM    1/200 - 1/400    

ELISA    1/10000