After several years of serving the research community, our ActiveDriverDB database will be retired on May 1st 2026. Please make sure to download any data you need and update your links or workflows before that date.
We want to sincerely thank all our users for their support, feedback, and collaboration over the years — your contributions have been invaluable to this project. A special thank you to Dr. Michal Krassowski for leading the development of our open-source software and database.
For any questions or assistance, please contact Jüri Reimand (juri.reimand@utoronto.ca).
GAA (NM_000152) - glucosidase alpha, acid
Lysosomal Alpha-Glucosidase Preproprotein
Legend
Protein
Kinases
Sites
Color corresponds to (the most severe) impact of mutations on given site:
Interactions
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PTM Interaction Network Visualisation
Protein 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].
- Strand
- +
- Chromosome
- 17
- Protein
- 952 residues
- All mutations
- 528
- PTM sites
- 14
- CDS
- 78,078,385 - 78,093,130
- Transcription
- 78,075,354 - 78,093,679
Usage summary
Network
PTM site
Kinases group
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Kinase, PTM site or protein
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