Glucosidase Alpha, Acid (GaA) Antibody – Rabbit Polyclonal

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. [provided by RefSeq, Jul 2008]

GAA: Essential for the degradation of glygogen to glucose in lysosomes. Defects in GAA are the cause of glycogen storage disease type 2 (GSD2); also called acid alpha-glucosidase (GAA) deficiency or acid maltase deficiency (AMD). GSD2 is a metabolic disorder with a broad clinical spectrum. The severe infantile form, or Pompe disease, presents at birth with massive accumulation of glycogen in muscle, heart and liver. Cardiomyopathy and muscular hypotonia are the cardinal features of this form whose life expectancy is less than two years. The juvenile and adult forms present as limb-girdle muscular dystrophy beginning in the lower limbs. Final outcome depends on respiratory muscle failure. Patients with the adult form can be free of clinical symptoms for most of their life but finally develop a slowly progressive myopathy. Belongs to the glycosyl hydrolase 31 family.

Protein type: Carbohydrate Metabolism - galactose; Contractile; EC 3.2.1.20; Hydrolase; Carbohydrate Metabolism - starch and sucrose

Chromosomal Location of Human Ortholog: 17q25.2-q25.3

Cellular Component: membrane; lysosome; lysosomal membrane

Molecular Function: alpha-glucosidase activity; maltase activity; carbohydrate binding

Biological Process: heart morphogenesis; maltose metabolic process; tissue development; glycogen catabolic process; vacuolar sequestering; glucose metabolic process; locomotory behavior; sucrose metabolic process; muscle maintenance; neuromuscular process controlling posture; lysosome organization and biogenesis; diaphragm contraction; neuromuscular process controlling balance; regulation of the force of heart contraction; cardiac muscle contraction

Disease: Glycogen Storage Disease Ii