人 ERLIN2 (NM_001003791) cDNA克隆

Accession: NM_001003791
基因名称: ERLIN2
基因别名: NET32; SPFH2; SPG18; C8orf2; Erlin-2
基因描述: Homo sapiens ER lipid raft associated 2 (ERLIN2), transcript variant 3, mRNA.
种属: Human
CDS区长度: 459 (查看编码区序列)
翻译后氨基酸长度: 152 (查看氨基酸序列)
Transcript Variant: This variant (3) differs in the 3' UTR and lacks a portion of the 3' coding region, compared to variant 1. Variants 2 and 3 encode the same isoform (2), which has a shorter and distinct C-terminus, compared to isoform 1.
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G119816 人 ERLIN2 (NM_001003791) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a member of the SPFH domain-containing family of lipid raft-associated proteins. The encoded protein is localized to lipid rafts of the endoplasmic reticulum and plays a critical role in inositol 1,4,5-trisphosphate (IP3) signaling by mediating ER-associated degradation of activated IP3 receptors. Mutations in this gene are a cause of spastic paraplegia-18 (SPG18). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]