- accession:NM_001079804
- 基因别名:GAA
- 基因描述:Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 3, mRNA.
- 载体:现货载体
- CDS区长度:2859
- 翻译后氨基酸长度:952
- TranscriptVariant:This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same protein.
- 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]
- 规格:10ul 质粒
CDS区参考序列: 点击查看序列翻译后氨基酸参数序列: 点击查看序列