人 POMT1 (NM_001077365) cDNA克隆

基本信息

Accession: NM_001077365
基因名称: POMT1
基因别名: RT; LGMD2K; MDDGA1; MDDGB1; MDDGC1
基因描述: Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant 2, mRNA.
种属: Human
CDS区长度: 2178 (查看编码区序列)
翻译后氨基酸长度: 725 (查看氨基酸序列)
Transcript Variant: This variant (2) uses an alternate in-frame splice site compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 2 and 4 both encode isoform b.

订购信息

产品编号 产品名称 载体 规格 价格
G126987 人 POMT1 (NM_001077365) cDNA克隆 pDONR223 2ug质粒 点击询价

载体信息

pDONR223载体图谱

相关转录本

人 POMT1 (NM_007171) cDNA克隆 transcript variant 1
人 POMT1 (NM_001077365) cDNA克隆 transcript variant 2
人 POMT1 (NM_001077366) cDNA克隆 transcript variant 3
人 POMT1 (NM_001136113) cDNA克隆 transcript variant 4
人 POMT1 (NM_001136114) cDNA克隆 transcript variant 5

基因简介

The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008]

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