anti-GAA Anticorps

Profil protéine

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 Pompe's 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.

Alternative names and synonyms associated with GAA

• glucosidase alpha, acid (GAA) anticorps
• glucosidase, alpha, acid (Gaa) anticorps
• glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II) (gaa) anticorps
• glucosidase alpha, acid (Gaa) anticorps

• E430018M07Rik anticorps
• LYAG anticorps

Protein level used designations for GAA

acid maltase , aglucosidase alfa , lysosomal alpha-glucosidase , acid (Pompe disease, glycogen storage disease type II) , acid alpha-glucosidase , glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II)