人 MITF (NM_001184967) cDNA克隆

基本信息

Accession: NM_001184967
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 7, mRNA.
种属: Human
CDS区长度: 1407 (查看编码区序列)
翻译后氨基酸长度: 468 (查看氨基酸序列)
Transcript Variant: This variant (7) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (7) is shorter than isoform 1.

订购信息

产品编号 产品名称 载体 规格 价格
G106532 人 MITF (NM_001184967) cDNA克隆 pDONR223 2ug质粒 点击询价

载体信息

pDONR223载体图谱

相关转录本

人 MITF (NM_198159) cDNA克隆 transcript variant 1
人 MITF (NM_198177) cDNA克隆 transcript variant 2
人 MITF (NM_006722) cDNA克隆 transcript variant 3
人 MITF (NM_000248) cDNA克隆 transcript variant 4
人 MITF (NM_198158) cDNA克隆 transcript variant 5
人 MITF (NM_198178) cDNA克隆 transcript variant 6
人 MITF (NM_001184967) cDNA克隆 transcript variant 7
人 MITF (NM_001184968) cDNA克隆 transcript variant 8

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]

相关产品