人 MITF (NM_198159) cDNA克隆

Accession: NM_198159
基因名称: MITF
基因别名: MI; WS2; CMM8; WS2A; bHLHe32
基因描述: Homo sapiens microphthalmia-associated transcription factor (MITF), transcript variant 1, mRNA.
种属: Human
CDS区长度: 1563 (查看编码区序列)
翻译后氨基酸长度: 520 (查看氨基酸序列)
Transcript Variant: This variant (1) represents the longest transcript, and encodes the longest isoform (1), also known as isoform MITF-A.
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G106536 人 MITF (NM_198159) cDNA克隆 pDONR223 2ug质粒 点击询价

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]