人 PGM1 (NM_001172818) cDNA克隆

基本信息

Accession: NM_001172818
基因名称: PGM1
基因别名: CDG1T; GSD14
基因描述: Homo sapiens phosphoglucomutase 1 (PGM1), transcript variant 2, mRNA.
种属: Human
CDS区长度: 1743 (查看编码区序列)
翻译后氨基酸长度: 580 (查看氨基酸序列)
Transcript Variant: This variant (2) has an alternate 5' exon, as compared to variant 1. The resulting isoform (2) has a longer and different N-terminus, as compared to isoform 1.

订购信息

产品编号 产品名称 载体 规格 价格
G112283 人 PGM1 (NM_001172818) 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 PGM1 (NM_002633) cDNA克隆 transcript variant 1
人 PGM1 (NM_001172818) cDNA克隆 transcript variant 2
人 PGM1 (NM_001172819) cDNA克隆 transcript variant 3

基因简介

The protein encoded by this gene is an isozyme of phosphoglucomutase (PGM) and belongs to the phosphohexose mutase family. There are several PGM isozymes, which are encoded by different genes and catalyze the transfer of phosphate between the 1 and 6 positions of glucose. In most cell types, this PGM isozyme is predominant, representing about 90% of total PGM activity. In red cells, PGM2 is a major isozyme. This gene is highly polymorphic. Mutations in this gene cause glycogen storage disease type 14. Alternativley spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Mar 2010]

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