|
gptkbp:instanceOf
|
gptkb:enzyme
|
|
gptkbp:alternativeName
|
gptkb:GCase
gptkb:acid_beta-glucosidase
gptkb:beta-glucocerebrosidase
|
|
gptkbp:associatedWith
|
gptkb:Gaucher_disease
|
|
gptkbp:CASNumber
|
9032-08-0
|
|
gptkbp:clinical_use
|
enzyme replacement therapy
|
|
gptkbp:cofactor
|
none required
|
|
gptkbp:deficiencyCauses
|
gptkb:Gaucher_disease
|
|
gptkbp:discoveredBy
|
gptkb:Roscoe_O._Brady
|
|
gptkbp:EC_number
|
3.2.1.45
|
|
gptkbp:enzymeClassification
|
gptkb:hydrolase
|
|
gptkbp:function
|
hydrolyzes glucocerebroside to glucose and ceramide
|
|
gptkbp:gene
|
gptkb:GBA
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
glucocerebrosidase
|
|
gptkbp:inhibitedBy
|
gptkb:conduritol_B_epoxide
gptkb:isofagomine
|
|
gptkbp:locatedOnChromosome
|
1q21
|
|
gptkbp:location
|
gptkb:lysosome
|
|
gptkbp:molecularWeight
|
59 kDa
|
|
gptkbp:mutation_association
|
gptkb:Parkinson's_disease
|
|
gptkbp:OMIM
|
606463
|
|
gptkbp:optimum_pH
|
5.5
|
|
gptkbp:PDB
|
2F61
|
|
gptkbp:product
|
glucose
ceramide
|
|
gptkbp:structure
|
monomeric glycoprotein
|
|
gptkbp:substrate
|
gptkb:glucocerebroside
|
|
gptkbp:tissue_specificity
|
ubiquitous, high in macrophages
|
|
gptkbp:UniProtID
|
P04062
|
|
gptkbp:bfsParent
|
gptkb:Type_1_Gaucher's_disease
gptkb:Gaucher_disease
|
|
gptkbp:bfsLayer
|
6
|