NP_954549.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Related Accession #
NCBI Official Full Name
lysosomal alpha-glucosidase
NCBI Official Synonym Full Names
glucosidase, alpha, acid
NCBI Protein Information
lysosomal alpha-glucosidase; acid maltase; acid alpha-glucosidase; acid (Pompe disease, glycogen storage disease type II); glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II)
UniProt Protein Name
Lysosomal alpha-glucosidase
UniProt Synonym Protein Names
Acid maltase
UniProt Entry Name
LYAG_RAT
NCBI Summary for GaA
human homolog catalyzes the degradation of glycogen [RGD, Feb 2006]
UniProt Comments for GaA
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: Contractile; Hydrolase; Carbohydrate Metabolism - galactose; EC 3.2.1.20; Carbohydrate Metabolism - starch and sucrose
Cellular Component: membrane; lysosomal membrane; lysosome
Molecular Function: alpha-glucosidase activity; maltase activity; carbohydrate binding
Biological Process: glycogen metabolic process; heart morphogenesis; tissue development; striated muscle contraction; glycogen catabolic process; vacuolar sequestering; locomotory behavior; 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
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Pathways associated with GaA recombinant protein
Diseases associated with GaA recombinant protein
Organs/Tissues associated with GaA recombinant protein
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