Recombinant Mouse Lysosomal alpha-Glucosidase/GAA, CF

This product is produced by and ships from R&D Systems, Inc., a Bio-Techne brand.

Acid alpha-glucosidase (GAA) is an essential enzyme for the hydrolysis of glycogen alpha 1-4 and alpha 1,6-glycosidic linkages within the lysosome (1,2). GAA is a member of the glycoside hydrolase family GH31 and contains an N-terminal trefoil-P domain, a beta -sheet domain, a catalytic barrel, and two C-terminal beta -sheet domains (2). In addition to an active site and substrate binding domain, GAA has an additional reported secondary substrate-binding domain that may enhance the processivity of the enzyme (2). Mouse GAA has approximately 80% homology with human GAA. Defects in GAA cause glycogen storage disease II, also known as Pompe's disease, which is a rare autosomal recessive metabolic disorder that damages muscle and nerve cells due to accumulation of glycogen in the lysosome (3). Pompe disease occurs in babies, children, and adults who inherit a defective GAA gene and affects an estimated 5,000 to 10,000 people worldwide (4). Enzyme replacement therapy (ERT) is used to treat patients with Pompe disease and other lysosomal storage diseases (LSDs) (5, 6). Alternative therapeutic strategies such as pharmacological chaperone therapy (PCT) are being explored for use in concert with or independently for the potential to stabilize the target enzyme without impact to the catalytic activity (2, 7, 8).

Array 11400-GH

• LYAG/GAA Antibodies
• LYAG/GAA ELISA Kits
• LYAG/GAA Kit
• LYAG/GAA Lysates
• LYAG/GAA Proteins
• LYAG/GAA Proteins and Enzymes