人 ALG11 (NM_001004127) cDNA克隆

Accession: NM_001004127
基因名称: ALG11
基因别名: GT8; CDG1P
基因描述: Homo sapiens ALG11, alpha-1,2-mannosyltransferase (ALG11), transcript variant A, mRNA.
种属: Human
CDS区长度: 1479 (查看编码区序列)
翻译后氨基酸长度: 492 (查看氨基酸序列)
Transcript Variant: This variant (A) represents the longer transcript and encodes the functional protein.
产品编号 产品名称 载体 规格 价格
G152665 人 ALG11 (NM_001004127) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase which is localized to the cytosolic side of the endoplasmic reticulum (ER) and catalyzes the transfer of the fourth and fifth mannose residue from GDP-mannose (GDP-Man) to Man3GlcNAc2-PP-dolichol and Man4GlcNAc2-PP-dolichol resulting in the production of Man5GlcNAc2-PP-dolichol. Mutations in this gene are associated with congenital disorder of glycosylation type Ip (CDGIP). This gene overlaps but is distinct from the UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) gene. A pseudogene of the GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase has been identified on chromosome 19. [provided by RefSeq, Aug 2010]