Rabbit anti-Human GAA Polyclonal Antibody | anti-GAA antibody

GAA, NT (GAA, Lysosomal alpha-glucosidase, Acid maltase, Aglucosidase alfa, 76kD lysosomal alpha-glucosidase, 70kD lysosomal alpha-glucosidase) (Azide free) (HRP)

Cat. Num. AAA6300679

• Gene Names: GAA; LYAG
• Reactivity: Human
• Applications: Immunohistochemistry, Western Blot, ELISA
• Purity: Purified by Protein A and Peptide Affinity Chromatography.
• Synonyms: GAA; Polyclonal Antibody; NT (GAA; Lysosomal alpha-glucosidase; Acid maltase; Aglucosidase alfa; 76kD lysosomal alpha-glucosidase; 70kD lysosomal alpha-glucosidase) (Azide free) (HRP); 70kD lysosomal alpha-glucosidase; anti-GAA antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Specificity: Recognizes human GAA.
• Purity/Purification: Purified by Protein A and Peptide Affinity Chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with Horseradish Peroxidase (HRP).

• Applicable Applications for anti-GAA antibody: Immunohistochemistry (IHC) Frozen/Paraffin, Western Blot (WB), ELISA (EIA)
• Application Notes: Applications are based on unconjugated antibody.
• Immunogen: KLH-conjugated synthetic peptide mapping to a fragment of residues within amino acids 174-203 in the N-terminal region of human GAA.
• Conjugate: HRP
• Note: Preservative Free
• Preparation and Storage: Store product at 4 degree C if to be used immediately within two weeks. For long-term storage, aliquot to avoid repeated freezing and thawing and store at -20 degree C. Aliquots are stable at -20 degree C for 12 months after receipt. Dilute required amount only prior to immediate use. Further dilutions can be made in assay buffer. Note: Sodium azide is a potent inhibitor of peroxidase and should not be added to HRP conjugates. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Western Blot (WB)

(Western Blot analysis of lysate from Jurkat cell line (20ug/lane) using MBS645420 (1:2000). An IgG H&L (HRP) goat anti-rabbit (1:10,000) used as the secondary antibody.)

Western Blot (WB)

(Western Blot analysis of lysates from A549, MCF-7, SW620, PC-3 cell line (20ug/lane) (from left to right), using MBS645420 (1:100). An IgG H&L (HRP) goat anti-rabbit (1:10,000) was used as the secondary antibody.)

Western Blot (WB)

(Western Blot analysis in HL-60 cell line lysates (35ug/lane) usingMBS645420.This demonstrates that MBS645420 detected the GAA protein (arrow).)

Immunohistochemistry (IHC)

(Immunohistochemistry analysis in formalin fixed and paraffin embedded human lung carcinoma using MBS645420 followed by peroxidase conjugation of the secondary antibody and DAB staining. This data demonstrates the use MBS645420 for immunohistochemistry.)

Product Categories/Family for anti-GAA antibody

Antibodies; Enzymes; Glycosidase

References

1. Bailey, S.D., et al. Diabetes Care 33(10): 2250-2253 (2010). 2. Labrousse, P., et al. Mol. Genet. Metab. 99(4): 379-383 (2010). 3. Talmud, P.J., et al. Am. J. Hum. Genet. 85(5): 628-642 (2009). 4. Aoyama, Y., et al. J. Hum. Genet. 54(11): 681-686 (2009). 5. Maimaiti, M., et al. J. Hum. Genet. 54(8): 493-496 (2009).

NCBI and Uniprot Product Information

• NCBI GI #: 119393891
• NCBI GeneID: 2548
• NCBI Accession #: NP_000143.2; NP_001073271.1
• NCBI GenBank Nucleotide #: NM_000152.4
• UniProt Accession #: P10253; Q09GN4; Q14351; Q16302; Q8IWE7
• Molecular Weight: 105,324 Da
• NCBI Official Full Name: lysosomal alpha-glucosidase preproprotein
• NCBI Official Synonym Full Names: glucosidase alpha, acid
• NCBI Official Symbol: GAA
• NCBI Official Synonym Symbols: LYAG
• NCBI Protein Information: lysosomal alpha-glucosidase
• UniProt Protein Name: Lysosomal alpha-glucosidase
• Protein Family: Lysosomal alpha-glucosidase
• UniProt Gene Name: GAA

NCBI Description

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. [provided by RefSeq, Jan 2016]

Uniprot Description

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: Carbohydrate Metabolism - galactose; Carbohydrate Metabolism - starch and sucrose; Contractile; EC 3.2.1.20; Hydrolase

Chromosomal Location of Human Ortholog: 17q25.3

Cellular Component: lysosomal lumen; lysosomal membrane; lysosome; membrane

Molecular Function: alpha-glucosidase activity; oligo-1,6-glucosidase activity

Biological Process: cardiac muscle contraction; diaphragm contraction; glucose metabolic process; glycogen catabolic process; lysosome organization and biogenesis; maltose metabolic process; sucrose metabolic process; vacuolar sequestering

Disease: Glycogen Storage Disease Ii