该基因编码一个转录因子,包含碱性螺旋环螺旋和亮氨酸拉链结构特征。调节黑素细胞视网膜色素上皮的分化和发育,并负责黑素生成酶基因的色素细胞特异性转录。该基因的杂合子突变引起听觉色素综合征,如Waardenburg综合征2型和Tietz综合征。另外,还发现了编码不同亚型的剪接转录变体。
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.

基因名:MITF
别名:CMM8,MI,WS2,WS2A,bHLHe32
基因ID:4286
Chromosome:
(GRCh37)
3 Start: 69788586 End: 70017488 Strand: 1
信号通路: 细胞增殖  肿瘤干细胞  遗传相关 
靶向药: PLX4720  司美替尼 
化疗药: