MITF

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abbr. for microphthalmia transcription factor; a protein (419 amino acids) that shows 91% sequence homology in mouse and human. It is a basic helix-loop-helix leucine zipper transcription factor expressed in the neural crest, eye, and ear during development. Mutations lead to microphthalmia in mouse, and to Waardenburg syndrome type 2 in human.

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