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Products:Signal Transduction >> Metabolism >> Energy Metabolism
Overview
Product name
Anti-GAA antibody
See all GAA products (3) ...
Description
Mouse monoclonal to GAA
Tested applications
Cross reactivity
Reacts with
Recombinant Fragment
Predicted to work with
Human
Immunogen
Recombinant fragment, corresponding to amino acids 851-953 of Human GAA
Properties
Form
Liquid
Storage instructions
Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.
Storage buffer
Preservative: None
PBS, pH 7.2
Concentration
Concentration information loading...
Purity
Protein G purified
Clonality
Monoclonal
Isotype
IgG1
Light chain type
kappa
Research areas
-
Western blot - GAA antibody (ab55049)
(enlarge)
Applications
Show applications key
Our Abpromise guarantee covers the use of ab55049 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
WB: Use a concentration of 1 - 5 µg/ml.(This antibody has only been tested in WB against the recombinant fragment used as immunogen. We have no data on the detection of endogenous protein.)
Target
Function
Essential for the degradation of glygogen to glucose in lysosomes.
Involvement in disease
Defects in GAA are the cause of glycogen storage disease type 2 (GSD2) [MIM:232300]; 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.
Sequence similarities
Belongs to the glycosyl hydrolase 31 family.
Contains 1 P-type (trefoil) domain.
Post-translational
modifications
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.
Cellular localization
Lysosome. Lysosome membrane.
Target information above from: UniProt accessionP10253
The UniProt Consortium
The Universal Protein Resource (UniProt) in 2010
Nucleic Acids Res. 38:D142-D148 (2010).
Alternative names
- 70 kDa lysosomal alpha-glucosidase antibody
- Acid alpha glucosidase antibody
- Acid maltase antibody
see all
Database links
- Entrez Gene: 2548 Human
- Omim: 606800 Human
- SwissProt: P10253 Human
- Unigene: 1437 Human
Anti-GAA antibody images:
Western blot - GAA antibody (ab55049)
Western blot against tagged recombinant protein immunogen using ab55049 GAA antibody at 1ug/ml. Predicted band size of immunogen is 37 kDa.
This antibody has only been tested in WB against the recombinant fragment used as immunogen. We have no data on the detection of endogenous protein.
References for Anti-GAA antibody (ab55049)
ab55049 has not yet been referenced specifically in any publications.
Publishing research using ab55049? Please let us know so that we can cite the reference in this datasheet
Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"