人 ALG9 (NM_001077690) cDNA克隆

Accession: NM_001077690
基因名称: ALG9
基因别名: CDG1L; DIBD1; LOH11CR1J
基因描述: Homo sapiens ALG9, alpha-1,2-mannosyltransferase (ALG9), transcript variant 2, mRNA.
种属: Human
CDS区长度: 1836 (查看编码区序列)
翻译后氨基酸长度: 611 (查看氨基酸序列)
Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The resulting isoform (b) lacks a 7-aa internal segment, compared to isoform a.
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G112465 人 ALG9 (NM_001077690) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes an alpha-1,2-mannosyltransferase enzyme that functions in lipid-linked oligosaccharide assembly. Mutations in this gene result in congenital disorder of glycosylation type Il. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]