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Glucosidase Alpha, Acid (GaA)

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LYAG; Acid Alpha-Glucosidase; Lysosomal Alpha-Glucosidase; Pompe Disease Glycogen Storage Disease Type II; Acid Maltase; Aglucosidase Alfa

Glucosidase Alpha, Acid (GaA)
CCC A177
HGNC 4065
MGI 95609
PubMed 8552676
RGD 735227
UniProt P10253
Wiki GAA

Lysosomal alpha-glucosidase is an enzyme that is encoded by the GAA gene. Error's in this gene cause glycogen storage disease type II (Pompe disease).

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 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.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA177Hu01 Recombinant Glucosidase Alpha, Acid (GaA) Positive Control; Immunogen; SDS-PAGE; WB.
RPA177Hu02 Recombinant Glucosidase Alpha, Acid (GaA) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAA177Hu01 Polyclonal Antibody to Glucosidase Alpha, Acid (GaA) WB; IHC; ICC; IP.
MAA177Hu22 Monoclonal Antibody to Glucosidase Alpha, Acid (GaA) WB; IHC; ICC; IP.
PAA177Hu02 Polyclonal Antibody to Glucosidase Alpha, Acid (GaA) WB; IHC; ICC; IP.
Assay Kits SEA177Hu ELISA Kit for Glucosidase Alpha, Acid (GaA) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA177Mu01 Recombinant Glucosidase Alpha, Acid (GaA) Positive Control; Immunogen; SDS-PAGE; WB.
RPA177Mu02 Recombinant Glucosidase Alpha, Acid (GaA) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAA177Mu01 Polyclonal Antibody to Glucosidase Alpha, Acid (GaA) WB; IHC; ICC; IP.
PAA177Mu02 Polyclonal Antibody to Glucosidase Alpha, Acid (GaA) WB; IHC; ICC; IP.
Assay Kits SEA177Mu ELISA Kit for Glucosidase Alpha, Acid (GaA) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA177Ra01 Recombinant Glucosidase Alpha, Acid (GaA) Positive Control; Immunogen; SDS-PAGE; WB.
RPA177Ra02 Recombinant Glucosidase Alpha, Acid (GaA) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAA177Ra01 Polyclonal Antibody to Glucosidase Alpha, Acid (GaA) WB; IHC; ICC; IP.
PAA177Ra02 Polyclonal Antibody to Glucosidase Alpha, Acid (GaA) WB; IHC; ICC; IP.
Assay Kits SEA177Ra ELISA Kit for Glucosidase Alpha, Acid (GaA) Enzyme-linked immunosorbent assay for Antigen Detection.
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  46. "Two clinical forms of glycogen-storage disease type II in two generations of the same family."Clin. Genet. 69:187-188(2006) [PubMed] [Europe PMC] [Abstract]
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  50. "Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease."Hum. Mutat. 29:E27-E36(2008) [PubMed] [Europe PMC] [Abstract]
  51. "Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations." J. Neurol. 256:1881-1890(2009) [PubMed] [Europe PMC] [Abstract]
  52. "Screening of late-onset Pompe disease in a sample of Mexican patients with myopathies of unknown etiology: identification of a novel mutation in the acid alpha-glucosidase gene."J. Child Neurol. 25:1034-1037(2010) [PubMed] [Europe PMC] [Abstract]
  53. "Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program."Mol. Genet. Metab. 99:379-383(2010) [PubMed] [Europe PMC] [Abstract]
  54. "Late form of Pompe disease with glycogen storage in peripheral nerves axons."J. Neurol. Sci. 301:59-62(2011) [PubMed] [Europe PMC] [Abstract]
  55. "Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants." Hum. Mutat. 33:1161-1165(2012) [PubMed] [Europe PMC] [Abstract]
  56. "A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations."Orphanet J. Rare Dis. 7:35-35(2012) [PubMed] [Europe PMC] [Abstract]