Anti-GAA Antibody (CAB19234)

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SKU:
CAB19234
Product Type:
Antibody
Antibody Type:
Monoclonal Antibody
Reactivity:
Human
Reactivity:
Mouse
Reactivity:
Rat
Host Species:
Rabbit
Isotype:
IgG
Synonyms:
GAA
Synonyms:
LYAG
Synonyms:
glucosidase alpha
Synonyms:
acid
Research Area:
Cell Biology

Description

Product Name:GAA Rabbit mAb
Product Code:CAB19234
Size:20uL, 50uL, 100uL
Synonyms:GAA, LYAG, glucosidase alpha, acid
Applications:WB
Reactivity:Human, Mouse, Rat
Host Species:Rabbit
Immunogen:Recombinant protein of human GAA.
Applications:WB
Recommended Dilutions:WB 1:500 - 1:2000
Reactivity:Human, Mouse, Rat
Immunogen:Recombinant protein of human GAA.
Purification Method:Affinity purification
Storage:Store at -20°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:IgG
Sequence:Email for sequence
Gene ID:2548
Uniprot:P10253
Cellular Location:Lysosome, Lysosome membrane
Calculated MW:120, 100, 75kDa
Observed MW:Refer to figures
UniProt Protein Function: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.
UniProt Protein Details:

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

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

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

NCBI Summary: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 Code:P10253
NCBI GenInfo Identifier:317373572
NCBI Gene ID:2548
NCBI Accession:P10253.4
UniProt Secondary Accession:P10253,Q09GN4, Q14351, Q16302, Q8IWE7,
UniProt Related Accession:P10253
Molecular Weight:105,324 Da
NCBI Full Name:Lysosomal alpha-glucosidase
NCBI 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
UniProt Synonym Protein Names:Acid maltase; Aglucosidase alfa
Protein Family:Lysosomal alpha-glucosidase
UniProt Gene Name:GAA  
UniProt Entry Name:LYAG_HUMAN
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