GAA Antibody (N-term) | MyBioSource MBS9205455 product information

product summary

company name :

MyBioSource

product type :

antibody

product name :

GAA Antibody (N-term)

catalog :

MBS9205455

quantity :

0.08 mL

price :

155 USD

clonality :

polyclonal

host :

rabbit

conjugate :

nonconjugated

reactivity :

human

application :

western blot, ELISA, immunohistochemistry, enzyme immunoassay

more info or order :

MyBioSource product webpage

product information

catalog number :

MBS9205455

products type :

Antibody

products full name :

GAA Antibody (N-term)

products short name :

GAA

products name syn :

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

other names :

lysosomal alpha-glucosidase preproprotein; Lysosomal alpha-glucosidase; lysosomal alpha-glucosidase; glucosidase, alpha; acid; Acid maltase; Aglucosidase alfa

products gene name :

GAA

other gene names :

GAA; GAA; LYAG

uniprot entry name :

LYAG_HUMAN

clonality :

Polyclonal

isotype :

Rabbit Ig

host :

Rabbit

reactivity :

Human

sequence positions :

174-203

sequence length :

952

specificity :

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.

purity :

Peptide Affinity Purified Rabbit Polyclonal Antibody (Pab)

form :

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.

concentration :

Vial Concentration: 0.46

storage stability :

Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C in small aliquots to prevent freeze-thaw cycles.

tested application :

Western Blot (WB), ELISA (EIA), Immunohistochemistry (IHC)

app notes :

IHC~~1:25. WB~~1:1000. IHC-P~~1:10~50

other info1 :

Antigen Type: Synthetic Peptide. Cellular Location: Lysosome. Lysosome membrane. Function: Essential for the degradation of glygogen to glucose in lysosomes. Gene ID: 2548

other info2 :

Antigen Source: HUMAN

products categories :

Metabolism; Signal Transduction

products description :

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.

products references :

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)

ncbi gi num :

119393891

ncbi acc num :

NP_000143.2

ncbi gb acc num :

NM_000152.3

uniprot acc num :

P10253

ncbi pathways :

RNA Polymerase Pathway (2548); RNA Polymerase Pathway (2548); RNA Polymerase Pathway (2548); RNA Polymerase Pathway (2548); RNA Polymerase Pathway (2548); RNA Polymerase Pathway (2548); RNA Polymerase Pathway (2548); RNA Polymerase Pathway (2548); RNA Polymerase Pathway (2548); RNA Polymerase Pathway (2548)

ncbi summary :

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]

uniprot summary :

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: 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

size1 :

0.08 mL

price1 :

155 USD

size2 :

0.4 mL

price2 :

340

more info or order :

MyBioSource product webpage