人 ALG2 (NM_033087) cDNA克隆

Accession: NM_033087
基因名称: ALG2
基因别名: CDGIi; NET38; hALPG2
基因描述: Homo sapiens ALG2, alpha-1,3/1,6-mannosyltransferase (ALG2), transcript variant 1, mRNA.
种属: Human
CDS区长度: 1251 (查看编码区序列)
翻译后氨基酸长度: 416 (查看氨基酸序列)
Transcript Variant: This variant (1) represents the shorter transcript.
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G108570 人 ALG2 (NM_033087) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a member of the glycosyltransferase 1 family. The encoded protein acts as an alpha 1,3 mannosyltransferase, mannosylating Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diphosphate. Defects in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ii). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]