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MITF melanocyte inducing transcription factor

Gene ID: 4286, updated on 8-Apr-2024
Gene type: protein coding
Also known as: MI; WS2; CMM8; WS2A; COMMAD; MITF-A; bHLHe32

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
MedGen: C4310625OMIM: 617306GeneReviews: Not available
See labs
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
GeneReviews: Not available
Melanoma, cutaneous malignant, susceptibility to, 8
MedGen: C3152204OMIM: 614456GeneReviews: Not available
See labs
Tietz syndrome
MedGen: C0391816OMIM: 103500GeneReviews: Not available
See labs
Waardenburg syndrome type 2A
MedGen: C1860339OMIM: 193510GeneReviews: Not available
See labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2021-04-13)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2021-04-13)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
3p13
Sequence:
Chromosome: 3; NC_000003.12 (69739464..69968332)
Total number of exons:
17

Links

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