MGP Database

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MGP001126

UniProt Annotations

Entry Information
Gene Nameglucosidase, alpha; acid
Protein EntryLYAG_HUMAN
UniProt IDP10253
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityHydrolysis of terminal, non-reducing (1->4)- linked alpha-D-glucose residues with release of alpha-D-glucose.
DiseaseGlycogen storage disease 2 (GSD2) [MIM:232300]: 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. {ECO:0000269|PubMed:10189220, ECO:0000269|PubMed:10206684, ECO:0000269|PubMed:10338092, ECO:0000269|PubMed:10737124, ECO:0000269|PubMed:11071489, ECO:0000269|PubMed:11738358, ECO:0000269|PubMed:12601120, ECO:0000269|PubMed:12923862, ECO:0000269|PubMed:14643388, ECO:0000269|PubMed:14695532, ECO:0000269|PubMed:14972326, ECO:0000269|PubMed:15145338, ECO:0000269|PubMed:15668445, ECO:0000269|PubMed:16433701, ECO:0000269|PubMed:1652892, ECO:0000269|PubMed:16782080, ECO:0000269|PubMed:1684505, ECO:0000269|PubMed:16917947, ECO:0000269|PubMed:17643989, ECO:0000269|PubMed:18425781, ECO:0000269|PubMed:18429042, ECO:0000269|PubMed:1898413, ECO:0000269|PubMed:19588081, ECO:0000269|PubMed:20080426, ECO:0000269|PubMed:20350966, ECO:0000269|PubMed:21109266, ECO:0000269|PubMed:22644586, ECO:0000269|PubMed:22676651, ECO:0000269|PubMed:7695647, ECO:0000269|PubMed:7717400, ECO:0000269|PubMed:7866409, ECO:0000269|PubMed:7881422, ECO:0000269|PubMed:7981676, ECO:0000269|PubMed:8094613, ECO:0000269|PubMed:8401535, ECO:0000269|PubMed:8834250, ECO:0000269|PubMed:9521422, ECO:0000269|PubMed:9535769, ECO:0000269|PubMed:9660056, ECO:0000269|Ref.5}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionEssential for the degradation of glygogen to glucose in lysosomes.
PolymorphismThere are three common alleles of GAA: GAA*1, GAA*2 and GAA*4. The sequence shown is that of allele GAA*1, which is the most common. Alleles GAA*2 and GAA*4 are much rarer.
PtmPhosphorylation of mannose residues ensures efficient transport of the enzyme to the lysosomes via the mannose 6- phosphate receptor.
PtmThe different forms of acid glucosidase are obtained by proteolytic processing.
SimilarityBelongs to the glycosyl hydrolase 31 family. {ECO:0000305}.
SimilarityContains 1 P-type (trefoil) domain. {ECO:0000255|PROSITE-ProRule:PRU00779}.
Subcellular LocationLysosome {ECO:0000269|PubMed:17897319}. Lysosome membrane {ECO:0000269|PubMed:17897319}.
Web ResourceName=GAA; Note=Mutations in alpha-glucosidase; URL="http://cluster15.erasmusmc.nl/klgn/pompe/mutations.html";
Web ResourceName=Glucosidase, alpha, acid (Pompe disease) (GAA); Note=Leiden Open Variation Database (LOVD); URL="http://www.lovd.nl/GAA";
Web ResourceName=Wikipedia; Note=Alpha-glucosidase entry; URL="http://en.wikipedia.org/wiki/Alpha-glucosidase";
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