人 ALG8 (NM_001007027) cDNA克隆

Accession: NM_001007027
基因名称: ALG8
基因别名: CDG1H
基因描述: Homo sapiens ALG8, alpha-1,3-glucosyltransferase (ALG8), transcript variant 2, mRNA.
种属: Human
CDS区长度: 1404 (查看编码区序列)
翻译后氨基酸长度: 467 (查看氨基酸序列)
Transcript Variant: This variant (2) contains an additional segment in the coding region compared to variant 1. The resulting isoform (b) contains a shorter and distinct C-terminus compared to isoform a.
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G104054 人 ALG8 (NM_001007027) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation of proteins. Mutations in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ih). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]