Partner proteins |
CTNNB1, EP300, FOS, GSK3B, LEF1, MAPK1, MAPK14, OTX2, PATZ1, PAX3, PAX6, PIAS3, RPS6KA1, SPI1, SUMO1, TFE3, TFEB, TFEC, UBE2I, CDK2, CDKN1A, FOS, LEF1, PATZ1, PAX6, PIAS3, RB1, SPI1, TFE3, TFEC, UBE2I |
Description of target |
MITF is a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. It regulates the differentiation and development of melanocytes retinal pigment epithelium and is also 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. Alternatively spliced transcript variants encoding different isoforms have been identified. This gene encodes a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. It regulates the differentiation and development of melanocytes retinal pigment epithelium and is also 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. Alternatively spliced transcript variants encoding different isoforms have been identified. |