|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
GSD2
acid maltase
glycogen storage disease II
|
|
gptkbp:associatedWith
|
gptkb:Pompe_disease
|
|
gptkbp:clinicalTrialPhase
|
available
|
|
gptkbp:discoveredBy
|
Henri-Géry Hers
|
|
gptkbp:encodes
|
acid alpha-glucosidase
|
|
gptkbp:Entrez_Gene_ID
|
2548
ENSG00000171298
|
|
gptkbp:enzymeCommissionNumber
|
3.2.1.20
|
|
gptkbp:expressedIn
|
gptkb:lysosome
|
|
gptkbp:fullName
|
acid alpha-glucosidase gene
|
|
gptkbp:function
|
glycogen breakdown
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
4065
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
GAA gene
|
|
gptkbp:inheritance
|
autosomal recessive
|
|
gptkbp:involvedIn
|
glycogen catabolic process
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_17
17q25.3
|
|
gptkbp:mutationAssociatedWith
|
gptkb:glycogen_storage_disease_type_II
nonsense
missense
frameshift
splice site
|
|
gptkbp:OMIM
|
606800
|
|
gptkbp:orthologInMouse
|
gptkb:Gaa
|
|
gptkbp:product
|
lysosomal alpha-glucosidase
|
|
gptkbp:UniProtID
|
P10253
|
|
gptkbp:bfsParent
|
gptkb:Glycogen_Storage_Disease_Type_II
|
|
gptkbp:bfsLayer
|
7
|