| Protein Name | glucosidase, alpha, acid |
|---|---|
| Organism | Mus musculus |
| Gene ID | 14387 |
| Gene Symbol | Gaa |
| UniProt | P70699 (LYAG_MOUSE) |
| Relationships |
Total Number of functionally related compound(s) :
70
Total Number of Articles : 88 |
Description |
glucosidase, alpha, acid |
| Gene Summary |
This gene encodes a lysosomal acid glucosidase that is involved in the degradation of glycogen. The encoded preproprotein undergoes proteolytic processing to generate a mature enzyme that cleaves alpha-1-4 and alpha-1-6 glycosidic bonds of glycogen, maltose and intermediate oligosaccharides within the lysosome. Mice lacking the encoded protein exhibit symptoms similar to human Pompe syndrome such as accumulation of glycogen in cardiac and skeletal muscle lysosomes resulting in reduced mobility and strength. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2015] |
| synonyms |
|
| Properties | |