{"symbol":"MITF","synonyms":["MI","CMM8","COMMAD","WS2","BHLHE32","WS2A"],"name":"microphthalmia-associated transcription factor","description":"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]","ncbiEntrezGeneId":4286,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/4286","proteins":[{"symbol":"MITF_HUMAN","href":"/api/1.0/protein/MITF_HUMAN"}],"hgncRootFamilies":[{"name":"Basic helix-loop-helix proteins (BHLH)","href":"/api/1.0/gene_family/Basic+helix-loop-helix+proteins+%28BHLH%29"}]}