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Concept information

Preferred term

Microphthalmia-Associated Transcription Factor  

Type

  • Topical Descriptor

Entry terms

  • Microphthalmia, Transcription Factor
  • MITF Protein
  • MITF Transcription Factor
  • Transcription Factor Microphthalmia

Scope note

  • 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.

History note

  • 2006(1993)

URI

http://www.yso.fi/onto/mesh/D051739

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