MITF, Official Symbol MITFprovided by HGNC Official Full Name melanocyte inducing transcription factorprovided by HGNC Primary source HGNC:HGNC:7105 See related Ensembl:ENSG00000187098 MIM:156845; AllianceGenome:HGNC:7105 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo 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] Expression Broad expression in endometrium (RPKM 9.9), heart (RPKM 3.9) and 19 other tissues See more Orthologs mouse all