GAA Recombinant Rabbit Monoclonal Antibody [JE54-59] (ET7110-77)

UNIPROT #

P10253

PROTEIN NAME

GAA

SYNONYMS

70 kDa lysosomal alpha-glucosidase antibody;Acid alpha glucosidase antibody;Acid maltase antibody;Aglucosidase alfa antibody;Alpha glucosidase antibody;GAA antibody;Glucosidase alpha acid (Pompe disease glycogen storage disease type II) antibody;Glucosidase alpha acid antibody;Glucosidase alpha antibody;LYAG antibody;LYAG_HUMAN antibody;Lysosomal alpha glucosidase antibody

SEQUENCE SIMILARITIES

Belongs to the glycosyl hydrolase 31 family.

POST-TRANSLATIONAL MODIFICATION

The different forms of acid glucosidase are obtained by proteolytic processing.; Phosphorylation of mannose residues ensures efficient transport of the enzyme to the lysosomes via the mannose 6-phosphate receptor.

SUBCELLULAR LOCATION

Lysosome, lysosome membrane.

FUNCTION

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.