D051739Level 7
Microphthalmia-Associated Transcription Factor
**Definition:** A basic helix-loop-helix leucine zipper transcription factor that regulates the CELL DIFFERENTIATION and development of a variety of cell types including MELANOCYTES; OSTEOCLASTS; and RETINAL PIGMENT EPITHELIUM. Mutations in MITF protein have been associated with OSTEOPETROSIS and WAARDENBURG SYNDROME.
**Tree numbers:** - D12.776.260.103.500.500 - D12.776.260.108.092.500 - D12.776.930.125.500.500 - D12.776.930.127.092.500
**Synonyms:** - MITF Protein - MITF Transcription Factor - Transcription Factor Microphthalmia
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