Lysosomal Alpha-Glucosidase (GAA) ELISA Kit for Human

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. [provided by RefSeq, Jan 2016]

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

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

Cellular Component: lysosomal lumen; lysosomal membrane; lysosome; membrane

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

Biological Process: carbohydrate metabolic process; cardiac muscle contraction; diaphragm contraction; glucose metabolic process; glycogen catabolic 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; sucrose metabolic process; tissue development; vacuolar sequestering

Disease: Glycogen Storage Disease Ii