The MITF gene encodes microphthalmia-associated transcription factor, which belongs to the MiT/TFE family of transcription factors and contains structural features such as basic helix-loop-helix (bHLH) and leucine zipper. Dimerization of this transcription factor enables its efficient binding to the regulatory elements present in the promoter region of target genes. Transactivation of these genes by microphthalmia-associated transcription factor plays a vital role in the development of melanocytes and melanogenesis.

Mutations in MITF gene are linked to Waardenburg Syndrome Type 2A and Tietz Albinism-Deafness Syndrome.