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Merck

MITF

microphthalmia-associated transcription factor

Synonyms:
CMM8, MI, WS2, WS2A, bHLHe32
Species:
Human MITF (4286), Mouse Mitf (17342), Rat Mitf (25094), domestic cat MITF (101091431), fruit fly Mitf (3885647), naked mole-rat Mitf (101719272), cow MITF (407219), dog MITF (415126), domestic guinea pig Mitf (100732590), sheep MITF (101115163) ...More
UniProtKB ID:
O75030, B4DJL2, D3K197, E9PFN0, Q14841, Q9P2V0, Q9P2V1, Q9P2V2
Gene ID:
  • Human(4286) Summary: This gene encodes a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. It regulates the differentiation and development of melanocytes retinal pigment epithelium and is also responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
  • Mouse(17342) microphthalmia-associated transcription factor
  • Rat(25094) microphthalmia-associated transcription factor
  • domestic cat(101091431) microphthalmia-associated transcription factor
  • fruit fly(3885647) CG43369 gene product from transcript CG43369-RA
  • naked mole-rat(101719272) microphthalmia-associated transcription factor
  • cow(407219) microphthalmia-associated transcription factor
  • dog(415126) microphthalmia-associated transcription factor
  • domestic guinea pig(100732590) microphthalmia-associated transcription factor
  • sheep(101115163) microphthalmia-associated transcription factor
  • chicken(395886) microphthalmia-associated transcription factor
  • Horse(100033918) microphthalmia-associated transcription factor
  • Domestic Rabbit(100344730) microphthalmia-associated transcription factor

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