人 PMP22 (NM_001281455) cDNA克隆

基本信息

Accession: NM_001281455
基因名称: PMP22
基因别名: DSS; HNPP; CMT1A; CMT1E; GAS-3; Sp110; HMSNIA
基因描述: Homo sapiens peripheral myelin protein 22 (PMP22), transcript variant 4, mRNA.
种属: Human
CDS区长度: 483 (查看编码区序列)
翻译后氨基酸长度: 160 (查看氨基酸序列)
Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3 ,4, and 5 encode the same protein.

订购信息

产品编号 产品名称 载体 规格 价格
G107751 人 PMP22 (NM_001281455) 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 PMP22 (NM_000304) cDNA克隆 transcript variant 1
人 PMP22 (NM_153321) cDNA克隆 transcript variant 2
人 PMP22 (NM_153322) cDNA克隆 transcript variant 3
人 PMP22 (NM_001281455) cDNA克隆 transcript variant 4
人 PMP22 (NM_001281456) cDNA克隆 transcript variant 5

基因简介

This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Studies suggest two alternately used promoters drive tissue-specific expression. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

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