| GENE NAME | MITF |
| CHROMOSOME | 3 |
| ENSEMBL ID | ENSG00000187098 |
| ENTREZ ID | 4286 |
| UNIPROT ACCESSION NUMBER | O75030 |
| GO MOLECULAR FUNCTION | protein binding; DNA-binding transcription factor activity, RNA polymerase II-specific; E-box binding; DNA-binding transcription repressor activity, RNA polymerase II-specific; DNA-binding transcription activator activity, RNA polymerase II-specific; chromatin binding; protein dimerization activity; RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | hsa05218; R-HSA-2990846; R-HSA-3108232; R-HSA-3232118; hsa04137; hsa04380; hsa04916; hsa05202; R-HSA-392499; hsa05200; R-HSA-597592 |
| 4 combinations linked to MITF | OLI398; OLI399; OLI917; OLI251 |
| 3 variants linked to MITF | MITF:c.718C>T, p.Arg347Cys; MITF:c.824delA, p.Glu275GlyfsTer22; MITF:c.965delA, p.Asn322fs |
| 3 diseases linked to MITF | Waardenburg syndrome; Ocular albinism with congenital sensorineural deafness; Non-syndromic genetic deafness |