Microphthalmia-associated transcription factor

Microphthalmia-Associated Transcription Factor

Microphthalmia-associated transcription factor

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Description:
Microphthalmia-associated transcription factor (Mitf) is a basic helix-loop-helix leucine zipper transcription factor involved in melanocyte and osteoclast development.

Clinical significance

It can be associated with Tietz syndrome and Waardenburg syndrome type IIa.

Target genes

Mitf recognizes E-box (CAYRTG) and M-box (TCAYRTG or CAYRTGA) sequences in the promoter regions of target genes. Known target genes (confirmed by at least two independent sources) of this transcription factor include,

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