Anti-GAA Antibody (CAB19234)
- 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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