| Protein Name | alpha glucosidase |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 2548 |
| Gene Symbol | GAA |
| UniProt | P10253 (LYAG_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
258
Total Number of Articles : 467 |
Description |
alpha glucosidase |
| Gene Summary |
This gene encodes lysosomal alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. The encoded preproprotein is proteolytically processed to generate multiple intermediate forms and the mature form of the enzyme. 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] |
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| Properties | |