ELISA/assay

Goat alpha-Glucosidase ELISA Kit

MBS745184

96 Strip Wells

675 USD

ELISA Kit

Goat alpha-Glucosidase ELISA Kit

alpha-Glucosidase

Goat a-Glucosidase ELISA Kit

alpha-glucosidase; Lysosomal alpha-glucosidase; lysosomal alpha-glucosidase; acid maltase; aglucosidase alfa; glucosidase, alpha; acid; Acid maltase; Aglucosidase alfa

A-Glu

GAA; GAA; LYAG

LYAG_HUMAN

Goat

Store all reagents at 2-8 degree C

Metabolism

114159823

ABI53718

P10253

105,324 Da

Galactose Metabolism Pathway 82931!!Galactose Metabolism Pathway 292!!Lysosome Pathway 99052!!Lysosome Pathway 96865!!Notch-mediated HES/HEY Network Pathway 169347!!Starch And Sucrose Metabolism Pathway 82974!!Starch And Sucrose Metabolism Pathway 344

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]

Function: Essential for the degradation of glygogen to glucose in lysosomes. Catalytic activity: Hydrolysis of terminal, non-reducing (1->4)-linked alpha-D-glucose residues with release of alpha-D-glucose. Subcellular location: Lysosome. Lysosome membrane Ref.14. Post-translational modification: The different forms of acid glucosidase are obtained by proteolytic processing.Phosphorylation of mannose residues ensures efficient transport of the enzyme to the lysosomes via the mannose 6-phosphate receptor. Polymorphism: There are three common alleles of GAA: GAA*1, GAA*2 and GAA*4. The sequence shown is that of allele GAA*1, which is the most common. Alleles GAA*2 and GAA*4 are much rarer. Involvement in disease: Glycogen storage disease 2 (GSD2) [MIM:232300]: 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5 Ref.8 Ref.18 Ref.19 Ref.20 Ref.21 Ref.22 Ref.24 Ref.25 Ref.26 Ref.27 Ref.29 Ref.30 Ref.31 Ref.32 Ref.33 Ref.34 Ref.35 Ref.36 Ref.37 Ref.38 Ref.39 Ref.40 Ref.41 Ref.42 Ref.43 Ref.44 Ref.45 Ref.46 Ref.47 Ref.48 Ref.49 Ref.50 Ref.51 Ref.52 Ref.53 Ref.54 Ref.55 Ref.56. Sequence similarities: Belongs to the glycosyl hydrolase 31 family.Contains 1 P-type (trefoil) domain.

96 Strip Wells

675 USD