别名： MITF;BHLHE32;Microphthalmia-associated transcription factor;Class E basic helix-loop-helix protein 32;bHLHe32
Organism-1： Human
基因ID-1： 4286
SwissProt-1： O75030
Organism-2： Mouse
基因ID-2： 17342
SwissProt-2： Q08874
背景： 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. [provided by RefSeq, Jul 2008],
别名： MITF;BHLHE32;Microphthalmia-associated transcription factor;Class E basic helix-loop-helix protein 32;bHLHe32
Organism-1： Human
基因ID-1： 4286
SwissProt-1： O75030
Organism-2： Mouse
基因ID-2： 17342
SwissProt-2： Q08874
背景： 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. [provided by RefSeq, Jul 2008],
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