Clone Number: 2G7
Immunogen: A synthetic peptide corresponding to a sequence in the middle region of human GAA, different from the related mouse sequence by eight amino acids, and from the related rat sequence by six amino acids.
Concentration: Adding 0.2 ml of distilled water =f 500 μg/ml.
Format: Lyophilized
Storage buffer: Each vial contains 4mg Trehalose, 0.9mg NaCl, 0.2mg Na2HPO4, 0.05mg NaN3.
Additional info: Store at -20˚C for one year from date of receipt. After reconstitution, at 4˚C for one month. It can also be aliquotted and stored frozen at -20˚C for six months. Avoid repeated freeze-thaw cycles.Add 0.2ml of distilled water will yield a concentration of 500μg/ml. Background: Lysosomal alpha-glucosidase is an enzyme that in humans is encoded by the GAA gene. 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. Subcellular Localization: Lysosome Tissue Specificity:
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