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Anti-GAA monoclonal antibody   (CABT-30488MH)  


Mouse anti-Human GAA monoclonal antibody for WB           Datasheet

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Specifications
Host Species
Mouse
Antibody Isotype
IgG1
Clone
EML349
Species Reactivity
Human
Immunogen
Recombinant fragment, corresponding to amino acids 851-953 of Human GAA
Conjugate
Unconjugated
Applications
Application Notes
WB: 1 - 5μg/ml;

*Suggested working dilutions are given as a guide only. It is recommended that the user titrates the product for use in their own experiment using appropriate negative and positive controls.

Target
Alternative Names
GAA; glucosidase, alpha; acid; lysosomal alpha-glucosidase; glycogen storage disease type II; Pompe disease; 70 kDa lysosomal alpha-glucosidase; Acid alpha glucosidase; Acid maltase; Aglucosidase alfa; Alpha glucosidase; GAA; Glucosidase alpha acid (Pompe
Entrez Gene ID
2548
UniProt ID
P10253
Product Background
Gene Summary
GAA (Glucosidase Alpha, Acid) is a Protein Coding gene. Diseases associated with GAA include glycogen storage disease ii and glycogen storage disease due to acid maltase deficiency, infantile onset. Among its related pathways are Metabolism and Glycosaminoglycan metabolism. GO annotations related to this gene include carbohydrate binding and alpha-1,4-glucosidase activity. An important paralog of this gene is MGAM. 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.
Antigen Description
This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein binds both insulin-like growth factors (IGFs) I and II and circulates in the plasma. Binding of this protein prolongs the half-life of the IGFs and alters their interaction with cell surface receptors. 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. 5}. Note=The disease is caused by mutations affecting the gene represented in this entry. Lysosomal alpha-glucosidase (also called α-1,4-glucosidase and acid maltase) is an enzyme that in humans is encoded by the GAA gene. Errors in this gene cause glycogen storage disease type II (Pompe disease). 0The function about GAA antigen include alpha-glucosidase activity; carbohydrate binding; hydrolase activity, hydrolyzing O-glycosyl compounds; maltose alpha-glucosidase activity.
Pathway
Galactose metabolism, organism-specific biosystem; Galactose metabolism, conserved biosystem; Lysosome, organism-specific biosystem; Lysosome, conserved biosystem; Metabolic pathways, organism-specific biosystem; Notch-mediated HES/HEY network, organism-specific biosystem; Starch and sucrose metabolism, organism-specific biosystem; Starch and sucrose metabolism, conserved biosystem.
References
Wang, ZH; Okamoto, P; et al. A new assay for fast, reliable CRIM status determination in infantile-onset Pompe disease. MOLECULAR GENETICS AND METABOLISM 111:92-100(2014).
Ghirmai, S; Mume, E; et al. Synthesis and radioiodination of some 9-aminoacridine derivatives. EUROPEAN JOURNAL OF ORGANIC CHEMISTRY :3719-3725(2004).
Custom Antibody Labeling
We offer labeled antibodies using our catalogue antibody products and a broad range of intensely fluorescent dyes and labels including HRP, biotin, ALP, Alexa Fluor® dyes, DyLight® Fluor dyes, R-phycoerythrin (R-PE), at scales from less than 100 μg up to 1 g of IgG antibody.
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