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 dog; 1 chicken; 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; chr17:78075355-78093679 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human GAA

Alleles and phenotypes

All alleles(12) : Targeted(6) Gene trapped(6)
 

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)

Gene Ontology (GO) classifications

All GO classifications: (45 annotations)

Process	carbohydrate metabolic process, cardiac muscle contraction, ...
Component	lysosome, membrane
Function	alpha-glucosidase activity, carbohydrate binding, ...

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (6 records)
Data Summary: Results (359)    Tissues (204)    Images (31)
Theiler Stages: 15, 18, 19, 20, 22, 23, 24, 25, 28

Assay Type	Results
RNA in situ	342
Northern blot	11
RT-PCR	6

cDNA source data(256)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(263) Genomic(2) cDNA(258) Primer pair(2) Other(1)
Microarray probesets(5)

Other database links

VEGA Gene Model	OTTMUSG00000003997 (Evidence)
Ensembl Gene Model	ENSMUSG00000025579 (Evidence)
Entrez Gene	14387 (Evidence)
UniGene	4793
DFCI	TC1573788, TC1622513, TC1721451, TC1778331
DoTS	DT.101738986, DT.101741469, DT.91325123, DT.94304519, DT.94391129, DT.97373353, DT.97373359, DT.97373413
EC	3.2.1.20
Consensus CDS Project	CCDS25713.1
International Mouse Knockout Project Status	Gaa

Sequences

Length	Strain/Species
genomic	OTTMUSG00000003997	VEGA Gene Model | MGI Sequence Detail	17568	C57BL/6J
transcript	OTTMUST00000008875	VEGA | MGI Sequence Detail	3633	Not Applicable
polypeptide	OTTMUSP00000004330	VEGA | MGI Sequence Detail	953	Not Applicable

All sequences(91) RefSeq(4) UniProt(5)

Polymorphisms

RFLP(1) : SNPs(113 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:190384 Nilsson MI, et al., Aerobic training as an adjunctive therapy to enzyme replacement in Pompe disease. Mol Genet Metab. 2012 Nov;107(3):469-79
All references(75)

Other accession IDs

MGD-MRK-9918, MGI:2442916