Typical Testing Data/Standard Curve (for reference only)
Mouse Lysosomal alpha-glucosidase ELISA Kit | Gaa elisa kit
Mouse Lysosomal alpha-glucosidase ELISA Kit
Typical Testing Data/Standard Curve (for reference only)
Typical Testing Data/Standard Curve (for reference only)
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
GAA: Essential for the degradation of glygogen to glucose in lysosomes. Defects in GAA are the cause of glycogen storage disease type 2 (GSD2); also called acid alpha-glucosidase (GAA) deficiency or acid maltase deficiency (AMD). GSD2 is a metabolic disorder with a broad clinical spectrum. The severe infantile form, or Pompe disease, presents at birth with massive accumulation of glycogen in muscle, heart and liver. Cardiomyopathy and muscular hypotonia are the cardinal features of this form whose life expectancy is less than two years. The juvenile and adult forms present as limb-girdle muscular dystrophy beginning in the lower limbs. Final outcome depends on respiratory muscle failure. Patients with the adult form can be free of clinical symptoms for most of their life but finally develop a slowly progressive myopathy. Belongs to the glycosyl hydrolase 31 family.
Protein type: Carbohydrate Metabolism - galactose; EC 3.2.1.20; Hydrolase; Carbohydrate Metabolism - starch and sucrose; Contractile
Cellular Component: lysosomal membrane; lysosome; membrane
Molecular Function: alpha-glucosidase activity; carbohydrate binding; catalytic activity; hydrolase activity; hydrolase activity, acting on glycosyl bonds; hydrolase activity, hydrolyzing O-glycosyl compounds; maltase activity
Biological Process: carbohydrate metabolic process; cardiac muscle contraction; diaphragm contraction; glycogen catabolic process; glycogen metabolic process; heart morphogenesis; locomotory behavior; lysosome organization and biogenesis; metabolic process; muscle maintenance; neuromuscular process controlling balance; neuromuscular process controlling posture; regulation of the force of heart contraction; striated muscle contraction; tissue development; vacuolar sequestering
Research Articles on Gaa
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Product Notes
The Mouse Gaa gaa (Catalog #AAA2880063) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA2880063 ELISA Kit recognizes Mouse Gaa. It is sometimes possible for the material contained within the vial of "Lysosomal alpha-glucosidase, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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