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lysosomal alpha-glucosidase; alpha-1,4-glucosidase; acid alpha glucosidase; acid maltase (GAA)
Function:
1) degradation of glycogen to glucose in lysosomes
2) hydrolysis of terminal, non-reducing 1,4-linked alpha-D-glucose residues with release of alpha-D-glucose
3) different forms of acid glucosidase via proteolytic processing
4) phosphorylation of mannose residues facilitates efficient transport to lysosomes via mannose 6-phosphate receptor
Structure:
- belongs to the glycosyl hydrolase 31 family
- contains 1 P-type (trefoil) domain
Compartment: lysosome
Polymorphism: 3 common alleles of GAA
Pathology:
- defects associated with glycogen storage disease-2
Pharmacology: see alglucosidase alfa (Myozyme)
Laboratory:
- GAA gene mutation
- acid alpha glucosidase measurement
- acid alpha glucosidase in fibroblasts
- acid alpha glucosidase in leukocytes
- acid alpha glucosidase in tissue
- acid alpha glucosidase in small intestine tissue
- acid alpha glucosidase in amniotic fluid
- acid alpha glucosidase in dried blood spot
- acid alpha glucosidase in semen
- acid alpha glucosidase in serum/plasma
Related
glycogen storage disease type-II (Pompe type glycogen storage disease, infantile acid maltase deficiency)
Specific
alglucosidase alfa (Myozyme, Lumizyme)
General
glucosidase
glycoprotein
lysosomal hydrolase
Properties
SIZE: MW = 105 kD
entity length = 952 aa
COMPARTMENT: lysosome
MOTIF: signal sequence {1-27}
P-TYPE {81-130}
MOTIF: cysteine residue {C82}
MODIFICATION: cysteine residue {C109}
cysteine residue {C92}
MODIFICATION: cysteine residue {C108}
cysteine residue {C103}
MODIFICATION: cysteine residue {C127}
cysteine residue {C108}
MODIFICATION: cysteine residue {C92}
cysteine residue {C109}
MODIFICATION: cysteine residue {C82}
cysteine residue {C127}
MODIFICATION: cysteine residue {C103}
N-glycosylation site {N140}
N-glycosylation site {N233}
N-glycosylation site {N390}
N-glycosylation site {N470}
aspartate residue {D518}
glutamate residue {E521}
N-glycosylation site {N652}
N-glycosylation site {N882}
N-glycosylation site {N925}
References
- UniProt :accession P10253
- GAA; Note: information about alpha-glucosidase
http://www.pompecenter.nl/index.html
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=GAA
- Wikipedia; Note: alpha-glucosidase entry
http://en.wikipedia.org/wiki/alpha-glucosidase
Databases & Figures
OMIM correlations
MORBIDMAP 606800
UniProt P10253
Contents of Cytotoxic T-cell Granules