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GAA Antibody (N-term) Blocking peptide
Synthetic peptide
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
| Primary Accession | P10253 |
|---|---|
| Clone Names | 80703075 |
| Gene ID | 2548 |
|---|---|
| Other Names | Lysosomal alpha-glucosidase, Acid maltase, Aglucosidase alfa, 76 kDa lysosomal alpha-glucosidase, 70 kDa lysosomal alpha-glucosidase, GAA |
| Format | Peptides are lyophilized in a solid powder format. Peptides can be reconstituted in solution using the appropriate buffer as needed. |
| Storage | Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C. |
| Precautions | This product is for research use only. Not for use in diagnostic or therapeutic procedures. |
| Name | GAA |
|---|---|
| Function | Essential for the degradation of glycogen in lysosomes (PubMed:1856189, PubMed:7717400, PubMed:14695532, PubMed:18429042). Has highest activity on alpha-1,4-linked glycosidic linkages, but can also hydrolyze alpha-1,6-linked glucans (PubMed:29061980). |
| Cellular Location | Lysosome. Lysosome membrane |
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Provided below are standard protocols that you may find useful for product applications.
Background
This gene encodes acid alpha-glucosidase, which isessential for the degradation of glycogen to glucose in lysosomes.Different forms of acid alpha-glucosidase are obtained byproteolytic processing. Defects in this gene are the cause ofglycogen storage disease II, also known as Pompe's disease, whichis an autosomal recessive disorder with a broad clinical spectrum.Three transcript variants encoding the same protein have been foundfor this gene.
References
Bailey, S.D., et al. Diabetes Care 33(10):2250-2253(2010)Labrousse, P., et al. Mol. Genet. Metab. 99(4):379-383(2010)Talmud, P.J., et al. Am. J. Hum. Genet. 85(5):628-642(2009)Aoyama, Y., et al. J. Hum. Genet. 54(11):681-686(2009)Maimaiti, M., et al. J. Hum. Genet. 54(8):493-496(2009)
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