人 GAA (NM_001079804) cDNA克隆

基本信息

Accession: NM_001079804
基因名称: GAA
基因别名: LYAG
基因描述: Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 3, mRNA.
种属: Human
CDS区长度: 2859 (查看编码区序列)
翻译后氨基酸长度: 952 (查看氨基酸序列)
Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same protein.

订购信息

产品编号 产品名称 载体 规格 价格
G142831 人 GAA (NM_001079804) 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 GAA (NM_000152) cDNA克隆 transcript variant 1
人 GAA (NM_001079803) cDNA克隆 transcript variant 2
人 GAA (NM_001079804) cDNA克隆 transcript variant 3

基因简介

This gene encodes acid alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. Different forms of acid alpha-glucosidase are obtained by proteolytic processing. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe's disease, which is an autosomal recessive disorder with a broad clinical spectrum. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

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