人 POMGNT1 (NM_001243766) cDNA克隆

Accession: NM_001243766
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 2, mRNA.
种属: Human
CDS区长度: 2247 (查看编码区序列)
翻译后氨基酸长度: 748 (查看氨基酸序列)
Transcript Variant: This variant (2) differs in the 5' and 3' UTRs and uses an alternate splice site in the coding region, compared to variant 1. The encoded isoform (2) is longer and has a distinct C-terminus, compared to isoform 1.
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G104243 人 POMGNT1 (NM_001243766) 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]