Rabbit Polyclonal to Human GAA / Alpha-Glucosidase; Acid; Human GAA / Alpha-Glucosidase; Acid; Acid maltase; Aglucosidase alfa; Glucosidase; alpha; Lysosomal alpha-glucosidase; Glucosidase; alpha acid; LYAG

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

Polyclonal

Rabbit

Human GAA

Immunoaffinity purified

PBS, 0.09% sodium azide

Maintain refrigerated at 2-8 degree C for up to 6 months.
For long term storage store at -20 degree C.

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.

GAA Antibody, Acid maltase Antibody, Aglucosidase alfa Antibody, Glucosidase, alpha Antibody, Lysosomal alpha-glucosidase Antibody, Glucosidase, alpha acid Antibody, LYAG Antibody Description: GAA / Alpha-Glucosidase, Acid is 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.

Immunohistochemistry (IHC) Paraffin, Western Blot (WB)

IHC-P (1:50)
WB (1:1000)

Anti-GAA antibody IHC staining of human prostate. Immunohistochemistry of formalin-fixed, paraffin-embedded tissue after heat-induced antigen retrieval. Antibody dilution 1:50.

GAA Antibody western blot of HL-60 cell line lysates (35 ug/lane). The GAA antibody detected the GAA protein (arrow).

Western blot of lysates from A549, MCF-7, SW620, PC-3 cell line (from left to right), using GAA Antibody. Antibody was diluted at 1:1000 at each lane. A goat anti-rabbit IgG H&L (HRP) at 1:10000 dilution was used as the secondary antibody. Lysates at 20ug per lane.

105,324 Da

glucosidase, alpha; acid

lysosomal alpha-glucosidase

Lysosomal alpha-glucosidase

LYAG_HUMAN

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]

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

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

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

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

Biological Process: carbohydrate metabolic process; cardiac muscle contraction; diaphragm contraction; glucose metabolic process; glycogen catabolic process; heart morphogenesis; locomotory behavior; lysosome organization and biogenesis; maltose metabolic process; muscle maintenance; neuromuscular process controlling balance; neuromuscular process controlling posture; regulation of the force of heart contraction; sucrose metabolic process; tissue development; vacuolar sequestering

Disease: Glycogen Storage Disease Ii

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