人 MTMR2 (NM_201281) cDNA克隆

基本信息

Accession: NM_201281
基因名称: MTMR2
基因别名: CMT4B; CMT4B1
基因描述: Homo sapiens myotubularin related protein 2 (MTMR2), transcript variant 3, mRNA.
种属: Human
CDS区长度: 1716 (查看编码区序列)
翻译后氨基酸长度: 571 (查看氨基酸序列)
Transcript Variant: This variant (3) includes an additional internal exon in its 5' UTR and initiates translation at a downstream start codon, compared to variant 1, resulting in an isoform (2) that is shorter at the N-terminus, compared to isoform 1. Variants 2, 3 and 4 encode the same isoform.

订购信息

产品编号 产品名称 载体 规格 价格
G167006 人 MTMR2 (NM_201281) 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 MTMR2 (NM_016156) cDNA克隆 transcript variant 1
人 MTMR2 (NM_201278) cDNA克隆 transcript variant 2
人 MTMR2 (NM_201281) cDNA克隆 transcript variant 3
人 MTMR2 (NM_001243571) cDNA克隆 transcript variant 4

基因简介

This gene is a member of the myotubularin family of phosphoinositide lipid phosphatases. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

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