人 POMGNT1 (NM_017739) cDNA克隆

Accession: NM_017739
基因名称: POMGNT1
基因别名: MEB; GNTI.2; LGMD2O; MDDGA3; MDDGB3; MDDGC3; GnT I.2; MGAT1.2; gnT-I.2
基因描述: Homo sapiens protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) (POMGNT1), transcript variant 1, mRNA.
种属: Human
CDS区长度: 1983 (查看编码区序列)
翻译后氨基酸长度: 660 (查看氨基酸序列)
Transcript Variant: This variant (1) represents the predominant transcript and encodes the shorter isoform (1).
产品编号 产品名称 载体 规格 价格
G104242 人 POMGNT1 (NM_017739) cDNA克隆 pDONR223 2ug质粒 点击询价

The protein encoded by this gene is a type II transmembrane protein that resides in the golgi. It participates in O-mannosyl glycosylation, and is specific for alpha linked terminal mannose. Mutations in this gene are associated with muscle-eye-brain (MEB) disease. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2008]