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Validated All-in-One™ qPCR Primer for GAA(NM_000152.4) Search again
Product ID:
HQP006552
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
LYAG
Gene Description:
alpha glucosidase
Target Gene Accession:
NM_000152.4(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
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| A | B |
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Each All-in-One™ qPCR Primer is experimentally validated to yield a single dissociation curve peak and to generate a single amplification of the correct size for the targeted gene. A cDNA Pool, containing reverse transcript products of 8 different human tissue total RNA(Liver, Testis,Muscle,Thyroid,Brain,Spleen,Stomach,Small Intestine)),was used as the qPCR validation template. qPCR was performed using 0.2 µM primer with 2XAll-in-One™ qPCR Mix (Catalog#: QP001,QP002,QP004,QP005). Reactions were incubated for 10min. at 95°C, followed by 40 cycles of 95°C for 10 sec.; 60°C, 20 sec. and 72°C, 15sec. using Bio-Rad iQ5™ Instrument. At the end of the last cycle, temperature was increased from 72 to 95°C to produce a melting curve. Panel A: Validated Result for Amplification Curve; Panel B: Validated Result for Melting Curve. |
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Summary
This gene encodes acid alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes.
Gene References into function
- Homozygosity for multiple contiguous single-nucleotide polymorphisms as an indicator of large heterozygous deletions: identification of a novel heterozygous 8-kb intragenic deletion (IVS7-19 to IVS15-17) in a patient with glycogen storage disease type II
- novel target of the Notch-1/Hes-1 signaling pathway
- 2 novel mutations of the acid alpha-glucosidase gene, P361L and R437C, were found in a juvenile-onset glycogen storage disease type II (GSDII) 16-year-old Chinese patient. The asymptomatic 13-year-old brother of the proband is also compound heterozygote
- mutations in the alpha glucosidase gene is associated with infantile onset glycogen storage disease type II.
- Childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn.
- data show that the mature forms of GAA characterized by polypeptides of 76 or 70 kDa are in fact larger molecular mass multicomponent enzyme complexes; peptides released during proteolytic processing remained tightly associated with the major species
- 2 novel mutations (Ala237Val and Gly293Arg) were foundin the acid alpha-glucosidase gene in a Pompe disease patient with vascular involvement.
- Acid-alpha-glucosidase activity and specific activity, and lysosomal glycogen content are useful predictors of age of onset in Pompe disease
- Complete molecular analysis of the GAA gene of patients with late onset glycogen storage disease type II shows missense mutations and splicing mutations.
- From 14 Argentinean patients diagnosed with either infantile or late-onset disease, we identified 14 distinct mutations in the acid alpha-glucosidase (GAA) gene including nine novel variants.
- Two new missense mutations (p.266Pro>Ser and p.439Met>Lys) were new missense mutations causing late onset GSD II.
- Patients with the same c.-32-13T-->G haplotype (c.q. GAA genotype) may manifest first symptoms at different ages, indicating that secondary factors may substantially influence the clinical course of patients with this mutation.
- demonstrated a significant increase of GAA activity (1.3-7.5-fold) after imino sugar treatment in fibroblasts from patients carrying the mutations L552P (three patients) and G549R (one patient)
- N-glycans of recombinant human GAA were expressed in the milk of transgenic rabbits.
- The role of autophagy in Pompe disease was examined by analyzing single muscle fibers.
- Mutations in glucosidase alpha is asspciated with glycogen storage disease type II
- Despite a common genotype, patients present with a wide variability in residual enzyme activity, age of appearance of clinical signs and rate of disease progression suggesting other factors in Pompe disease.
- In Glycogen Storage Disease Type II suggesting a loss alpha-Glucosidase of function rather than abnormal protein processing and expression
- Polymorphism in acid alpha-glucosidase is associated with Pompe disease
- The clinical heterogeneity of Pompe disease is explained by the kind and severity of mutations in the GAA gene with 107 sequence variations (95 being novel) discovered; but secondary factors, as yet unknown, have a substantial impact.
- Study characterized 29 unrelated Itatlian infant patients presenting with the severe form of Pompe disease and identified 26 pathogenic mutations divided over 28 different genotypes in GAA.
- We performed a molecular genetic study on 29 patients with infantile-onset glycogen-storage disease type II (GSDII), 6 with juvenile-onset GSDII and one carrier for GSDII. Seventeen different mutations were identified among them; 8 were novel mutations.