- accession:NM_198178
- 基因别名:MITF
- 基因描述:Homo sapiens microphthalmia-associated transcription factor (MITF), transcript variant 6, mRNA.
- 载体:现货载体
- CDS区长度:1074
- 翻译后氨基酸长度:357
- TranscriptVariant:This variant (6) differs in the 5' UTR and the 5' coding region, and uses two alternate, in-frame splice sites in the coding region compared to variant 1. The resulting isoform (6), also known as isoform MITF-Mdel, has a distinct N-terminus and is shorter than isoform 1.
- 基因简介: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]
- 规格:10ul 质粒
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