MITF (NM_000248) - melanocyte inducing transcription factor
Microphthalmia-Associated Transcription Factor Isoform 4
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Protein
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Protein summary
The protein encoded by this gene is a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. The encoded protein regulates melanocyte development and is 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. [provided by RefSeq, Aug 2017].
- Strand
- +
- Chromosome
- 3
- Protein
- 419 residues
- All mutations
- 96
- PTM sites
- 8
- CDS
- 69,985,873 - 70,014,399
- Transcription
- 69,985,750 - 70,017,488
Usage summary
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PTM site
Kinases group
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Kinase, PTM site or protein
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