Mi is a basic helix-loop-helix-leucine zipper (b-HLH-ZIP) transcription factor implicated in pigmentation, mast cells and bone development. The mutation of Mi causes Waardenburg Syndrome type II in humans. In mice, a profound loss of pigmented cells in the skin eye and inner ear results, as well as osteopetrosis and defects in natural killer and mast cells. There are two known isoforms of Mi differing by 66 amino acids at the NH2 terminus. Shorter forms are expressed in melanocytes and run as two bands at 52 kDa and 56 kDa, while the longer Mi form runs as a cluster of bands at 60-70 kDa in osteoclasts and in B16 melonoma cells (but not other melanoma cell lines), as well as mast cells and heart.
Protein Aliases: bHLHe32; black eyed white; Class E basic helix-loop-helix protein 32; microphtalmia-associated transcription factor; microphthalmia; Microphthalmia-associated transcription factor
Gene Aliases: BCC2; BHLHE32; Bw; CMM8; Gsfbcc2; MI; MITF; Vit; Vitiligo; Wh; WS2; WS2A