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MITF - melanocyte inducing transcription factor
- Synonym(s) : bHLHe32, homolog of mouse microphthalmia, MI
- Previous symbols and names : WS2, WS2A, Waardenburg syndrome, type 2A, melanogenesis associated transcription factor, microphthalmia-associated transcription factor
- Type : gene with protein product
- Chromosomal location : 3p13
- OMIM: 156845
- HGNC: 7105
- UniProtKB: O75030
- Genatlas: MITF
- Ensembl: ENSG00000187098
- IUPHAR-DB: -
- Reactome: O75030
- LOVD: MITF
Diseases list
- Disease-causing germline mutation(s) in Tietz syndrome
ORPHA:42665 
- Disease-causing germline mutation(s) in Waardenburg-Shah syndrome
ORPHA:897 - Disease-causing germline mutation(s) in Waardenburg syndrome type 2
ORPHA:895 - Major susceptibility factor in Clear cell papillary renal cell carcinoma
ORPHA:404511 - Major susceptibility factor in Familial melanoma
ORPHA:618 - Major susceptibility factor in MITF-related melanoma and renal cell carcinoma predisposition syndrome
ORPHA:293822 - Major susceptibility factor in Papillary renal cell carcinoma
ORPHA:319298
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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