Description: Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA. RefSeq Summary (NM_000152): 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]. Transcript (Including UTRs) Position: hg19 chr17:78,075,355-78,093,679 Size: 18,325 Total Exon Count: 20 Strand: + Coding Region Position: hg19 chr17:78,078,386-78,093,130 Size: 14,745 Coding Exon Count: 19
ID:LYAG_HUMAN DESCRIPTION: RecName: Full=Lysosomal alpha-glucosidase; EC=3.2.1.20; AltName: Full=Acid maltase; AltName: Full=Aglucosidase alfa; Contains: RecName: Full=76 kDa lysosomal alpha-glucosidase; Contains: RecName: Full=70 kDa lysosomal alpha-glucosidase; Flags: Precursor; FUNCTION: Essential for the degradation of glygogen to glucose in lysosomes. CATALYTIC ACTIVITY: Hydrolysis of terminal, non-reducing (1->4)- linked alpha-D-glucose residues with release of alpha-D-glucose. SUBCELLULAR LOCATION: Lysosome. Lysosome membrane. PTM: The different forms of acid glucosidase are obtained by proteolytic processing. PTM: Phosphorylation of mannose residues ensures efficient transport of the enzyme to the lysosomes via the mannose 6- phosphate receptor. POLYMORPHISM: There 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. DISEASE: Defects in GAA are the cause of glycogen storage disease type 2 (GSD2) [MIM:232300]; 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. SIMILARITY: Belongs to the glycosyl hydrolase 31 family. SIMILARITY: Contains 1 P-type (trefoil) domain. WEB RESOURCE: Name=GAA; Note=Mutations in alpha-glucosidase; URL="http://cluster15.erasmusmc.nl/klgn/pompe/mutations.html"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GAA"; WEB RESOURCE: Name=Wikipedia; Note=Alpha-glucosidase entry; URL="http://en.wikipedia.org/wiki/Alpha-glucosidase"; WEB RESOURCE: Name=Glucosidase, alpha, acid (Pompe disease) (GAA); Note=Leiden Open Variation Database (LOVD); URL="http://www.lovd.nl/GAA";
delayed onset of glycogenosis type II. Boerkoel CF et al. 1995, Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II., American journal of human genetics. 1995 Apr;56(4):887-97.
[PubMed 7717400]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P10253
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
