Recombinant Human Lysosomal alpha-glucosidase (GAA), Truncated

Uniprot Id

P10253

Target Species

Human

Target Name

GAA

Target Full Name

Lysosomal alpha-glucosidase

Target Function

Essential for the degradation of glycogen in lysosomes. Has highest activity on alpha-1,4-linked glycosidic linkages, but can also hydrolyze alpha-1,6-linked glucans.

Target Involvement

Glycogen storage disease 2 (GSD2)

Target Subcellular Location

Lysosome. Lysosome membrane.

Target Protein Families

Glycosyl hydrolase 31 family

Target Synonyms

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

Target Background

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.