Anti-GAA (full length) polyclonal antibody

Antibody Isotype

IgG

Species Reactivity

Mouse; Human

Immunogen

Full length protein, corresponding to amino acids 1-952 of Human GAA.

Conjugate

Application Notes

WB: 1/500 - 1/1000; IHC-P: 5μg/ml;

Alternative Names

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

Entrez Gene ID

UniProt ID

Antigen Description

This gene encodes acid alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. Different forms of acid alpha-glucosidase are obtained by proteolytic processing. Defects in this gene are the cause of glycogen storage disease II, also known as Pompes disease, which is an autosomal recessive disorder with a broad clinical spectrum. Three transcript variants encoding the same protein have been found for this gene.

Pathway

Galactose metabolism, organism-specific biosystem; Galactose metabolism, conserved biosystem; Lysosome, organism-specific biosystem; Lysosome, conserved biosystem; Metabolic pathways, organism-specific biosystem; Notch-mediated HES/HEY network, organism-specific biosystem; Starch and sucrose metabolism, organism-specific biosystem; Starch and sucrose metabolism, conserved biosystem;