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Gene Information
Gene ID:2548
Symbol:GAA
Full Name:glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II)
Alias:LYAG
Organism:Homo sapiens (Human)
Chromosome:17
Genetic Location:17q25.2-q25.3
Physical Location:75689949-75708273 on NC_000017.9
Gene Type:protein-coding
Orthologs:This gene has Mouse: 14387 ortholog(s) in other dataset(s).
Gene in Ethanol Study Datasets
Gene Information
Original ID1:GAA
Dataset Information
Name:Literature Search
Method:Literature search
Summary:We search all human protein coding gene names and the keywords Alcohol or Ethanol or Alcoholism in the title or abstract of all PUBMED publications. For those gene name less than 3 characters or search result hits more than 100, we use the full name to search again and manually check the results to reduce false positive.
Gene Refseq Sequence Annotation
mRNAProteinReference assembly Genomic
NM_000152.3NP_000143.2NC_000017.9 range: 75689949..75708273
NM_001079803.1NP_001073271.1NC_000017.9 range: 75689949..75708273
NM_001079804.1NP_001073272.1NC_000017.9 range: 75689949..75708273
Gene Ontology (GO) Annotation
GO IDGO TermCategoryEvidence (PubMed)
GO:0005764lysosomeCellular ComponentIEA
GO:0004553hydrolase activity, hydrolyzing O-glycosyl compoundsMolecular FunctionIEA
GO:0004558alpha-glucosidase activityMolecular FunctionIEA
GO:0005529sugar bindingMolecular FunctionIC (9505277)
GO:0008152metabolic processBiological ProcessIEA
GO:0043181vacuolar sequesteringBiological ProcessIMP (10931430)
GO:0043587tongue morphogenesisBiological ProcessIMP (10931430)
GO:0000023maltose metabolic processBiological ProcessIC (9505277)
GO:0055010ventricular cardiac muscle morphogenesisBiological ProcessIMP (10931430)
GO:0007517muscle developmentBiological ProcessIMP (7717400)
GO:0007040lysosome organization and biogenesisBiological ProcessIMP (7717400)
GO:0006006glucose metabolic processBiological ProcessIC (9505277)
GO:0005985sucrose metabolic processBiological ProcessIC (9505277)
GO:0005980glycogen catabolic processBiological ProcessIDA (9505277)
GO:0005975carbohydrate metabolic processBiological ProcessIEA
GO:0002086diaphragm contractionBiological ProcessIMP (16917947)
GO:0060048cardiac muscle contractionBiological ProcessIMP (10931430)
Other Database Cross Links
NCBI Entrez Gene:2548
HGNC:4065
Ensembl:ENSG00000171298
MIM:606800
HPRD:06006
HuGE Navigator:2548
dbSNP:GAA
GeneCard:GAA
AceView:GAA