Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:enzyme
|
| gptkbp:alsoKnownAs |
gptkb:GCase
gptkb:beta-glucocerebrosidase |
| gptkbp:associatedWith |
gptkb:Parkinson's_disease
|
| gptkbp:deficiencyCauses |
gptkb:Gaucher_disease
|
| gptkbp:EC_number |
3.2.1.45
|
| gptkbp:encodedBy |
gptkb:GBA_gene
|
| gptkbp:expressedIn |
various tissues, especially macrophages
|
| gptkbp:function |
hydrolyzes glucocerebroside to glucose and ceramide
|
| https://www.w3.org/2000/01/rdf-schema#label |
glucosylceramidase beta
|
| gptkbp:locatedOnChromosome |
1q21
|
| gptkbp:location |
gptkb:lysosome
|
| gptkbp:medicalUse |
target for enzyme replacement therapy in Gaucher disease
|
| gptkbp:molecularWeight |
~59 kDa
|
| gptkbp:mutationAssociatedWith |
leads to lysosomal storage disorder
|
| gptkbp:OMIM |
606463
|
| gptkbp:product |
glucose
ceramide |
| gptkbp:structure |
gptkb:protein
|
| gptkbp:substrate |
gptkb:glucocerebroside
|
| gptkbp:UniProtID |
P04062
|
| gptkbp:bfsParent |
gptkb:GBA_gene
|
| gptkbp:bfsLayer |
7
|