Glucosidase Alpha, Acid (GaA) Antibody – Rabbit Polyclonal

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; Carbohydrate Metabolism - starch and sucrose; Contractile; EC 3.2.1.20; Hydrolase

Chromosomal Location of Human Ortholog: 10q32.3

Cellular Component: integral component of membrane; lysosomal membrane; lysosome; membrane

Molecular Function: alpha-1,4-glucosidase activity; carbohydrate binding; maltase activity; oligo-1,6-glucosidase activity

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