Lysosomal alpha-glucosidase; Acid maltase; Aglucosidase alfa; 76 kDa lysosomal alpha-glucosidase; 70 kDa lysosomal alpha-glucosidase; GAA

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

Rabbit Ig

Rabbit

This GAA antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 174-203 amino acids from the N-terminal region of human GAA.

Peptide Affinity Purified Rabbit Polyclonal Antibody (Pab)

Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification.

Maintain refrigerated at 2-8°C for up to 2 weeks. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles .

Small volumes of anti-GAA antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

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.

Metabolism; Signal Transduction

WB, IHC, IHC-P,E

WB~~1:2000
IHC~~1:25
IHC-P~~1:10~50

All lanes : Anti-GAA Antibody (N-term) at 1:1000 dilution Lane 1: Hela whole cell lysate Lane 2: MCF-7 whole cell lysate Lane 3: SW620 whole cell lysate Lane 4: A549 whole cell lysate Lysates/proteins at 20 ?g per lane. Secondary Goat Anti-Rabbit IgG, (H+L), Peroxidase conjugated at 1/10000 dilution. Predicted band size : 105 kDa Blocking/Dilution buffer: 5% NFDM/TBST

Anti-GAA Antibody (N-term) at 1:1000 dilution + Human placenta tissue lysate Lysates/proteins at 20 ?g per lane. Secondary Goat Anti-Rabbit IgG, (H+L), Peroxidase conjugated at 1/10000 dilution. Predicted band size : 105 kDa Blocking/Dilution buffer: 5%

MBS9205455 staining GAA in Human liver tissue sections by Immunohistochemistry (IHC-P - paraformaldehyde-fixed, paraffin-embedded sections). Tissue was fixed with formaldehyde and blocked with 3% BSA for 0. 5 hour at room temperature; antigen retrieval was by heatmediation with a citrate buffer (pH6). Samples were incubated with primary antibody (1/25) for 1 hours at 37°C. A undiluted biotinylated goat polyvalent antibody was used as thesecondary antibody

Western blot analysis of lysate from Jurkat cell line, using GAA Antibody (N-term). MBS9205455 was diluted at 1:2000. A goat anti-rabbit IgG H&L(HRP) at 1:10000 dilution was used as the secondary antibody. Lysate at 20ug.

GAA Antibody (N-term) (MBS9205455)immunohistochemistry analysis in formalin fixed and paraffin embedded humanlung carcinoma followed by peroxidase conjugation of the secondary antibody and DAB staining.This data demonstrates the use of GAA Antibody (N-term) for immunohistochemistry. Clinical relevance has not been evaluated.

glucosidase, alpha; acid

lysosomal alpha-glucosidase

Lysosomal alpha-glucosidase

LYAG_HUMAN

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]

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 ***** forms present as limb-girdle muscular dystrophy beginning in the lower limbs. Final outcome depends on respiratory muscle failure. Patients with the ***** 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: EC 3.2.1.20; Contractile; Carbohydrate Metabolism - starch and sucrose; Carbohydrate Metabolism - galactose; Hydrolase

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

Cellular Component: membrane; lysosome; lysosomal membrane

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

Biological Process: heart morphogenesis; maltose metabolic process; tissue development; glycogen catabolic process; vacuolar sequestering; glucose metabolic process; sucrose metabolic process; 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

Disease: Glycogen Storage Disease Ii

Bailey, S.D., et al. Diabetes Care 33(10):2250-2253(2010)
Labrousse, P., et al. Mol. Genet. Metab. 99(4):379-383(2010)
Talmud, P.J., et al. Am. J. Hum. Genet. 85(5):628-642(2009)
Aoyama, Y., et al. J. Hum. Genet. 54(11):681-686(2009)
Maimaiti, M., et al. J. Hum. Genet. 54(8):493-496(2009)

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