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Gaa
Gene Detail
Symbol

Name
ID
Gaa
glucosidase, alpha, acid
MGI:95609
Synonyms
E430018M07Rik
Feature Type
protein coding gene
Genetic Map
Chromosome 11
83.35 cM, cytoband D-E
Detailed Genetic Map ± 1 cM


Mapping data(10)
Sequence Map
Chr11:119267887-119285454 bp, + strand
From VEGA annotation of GRCm38

  17568 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:37268  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: lysosomal alpha-glucosidase
Gene Tree: Gaa

Human
homologs
Human Homolog GAA, glucosidase, alpha; acid
NCBI Gene ID 2548
neXtProt AC  NX_P10253
Human Synonyms  LYAG
Human Chr (Location)  17q25.2-q25.3; chr17:80101541-80119881 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human GAA
Mutations,
alleles, and
phenotypes
All mutations/alleles(12) : Gene trapped(6) Targeted(6)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous inactivation of this gene leads to massive glycogen accumulation in multiple organs, cardiomyopathy, hypoactivity, severe motor disability, profound muscle weakness and wasting, and progressive kyphosis. The age of onset and clinical course of the disease appear to be strain-dependent.
 
Human Diseases Modeled Using Mouse Gaa (1)    Alleles Annotated to Human Diseases(4)    Phenotype Images(4)
Interactions
Gaa interacts with 70 markers (Mir1a-1, Mir1a-2, Mir15a, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (8 records)
Data Summary: Results (359)    Tissues (204)    Images (31)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 342
Northern blot 11
RT-PCR 6
cDNA source data(259)
External Resources: Allen Institute   GENSAT   GEO   Expression Atlas
Molecular
reagents
All nucleic(266) Genomic(2) cDNA(261) Primer pair(2) Other(1)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000003997 (Evidence)
Ensembl Gene ModelENSMUSG00000025579 (Evidence)
Entrez Gene14387 (Evidence)
UniGene4793
DFCITC1573788, TC1622513, TC1721451, TC1778331
DoTSDT.101738986, DT.101741469, DT.91325123, DT.94304519, DT.94391129, DT.97373353, DT.97373359, DT.97373413
EC3.2.1.20
Consensus CDS ProjectCCDS25713.1
International Mouse Knockout Project StatusGaa
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000003997 VEGA Gene Model | MGI Sequence Detail 17568 C57BL/6J ±  kb
transcript OTTMUST00000008875 VEGA | MGI Sequence Detail 3633 Not Applicable 
polypeptide OTTMUSP00000004330 VEGA | MGI Sequence Detail 953 Not Applicable 

For the selected sequences
All sequences(95) RefSeq(4) UniProt(9)
Polymorphisms
RFLP(1) : SNPs within 2kb(192 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR011013 Galactose mutarotase-like domain
InterPro IPR000322 Glycoside hydrolase, family 31
InterPro IPR025887 Glycoside hydrolase family 31, N-terminal domain
InterPro IPR017853 Glycoside hydrolase, superfamily
InterPro IPR000519 P-type trefoil
InterPro IPR017957 P-type trefoil, conserved site
Protein Ontology PR:000007752 lysosomal alpha-glucosidase
References
(Earliest) J:6674 Stallings RL, et al., Confirmational, provisional, and/or regional assignment of 15 enzyme loci onto Chinese hamster autosomes 1, 2, and 7. Somatic Cell Genet. 1981 Nov;7(6):683-98
(Latest) J:212055 Farah BL, et al., Adjunctive beta2-agonist treatment reduces glycogen independently of receptor-mediated acid alpha-glucosidase uptake in the limb muscles of mice with Pompe disease. FASEB J. 2014 May;28(5):2272-80
All references(81)
Disease annotation references (7)
Other
accession IDs
MGD-MRK-9918, MGI:2442916

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
12/09/2014
MGI 5.20
The Jackson Laboratory