MITF melanocyte inducing transcription factor
Gene ID: 4286, updated on 2-Nov-2024Gene type: protein coding
Also known as: MI; WS2; CMM8; WS2A; COMMAD; MITF-A; bHLHe32
- See all available tests in GTR for this gene
- Go to complete Gene record for MITF
- Go to Variation Viewer for MITF variants
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
| Description | Tests |
|---|---|
| Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness | See labs |
| Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. GeneReviews: Not available | |
| Melanoma, cutaneous malignant, susceptibility to, 8 | See labs |
| Tietz syndrome | See labs |
| Waardenburg syndrome type 2A | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2021-04-13) ClinGen Genome Curation PageHaploinsufficency 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
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MITF variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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