The immunogen is a synthetic peptide directed towards the N terminal region of human MITF
Alternative Synonym:
MI, WS2, CMM8, WS2A, COMMAD, bHLHe32
MITF is 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.