Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:acid_beta-glucosidase
gptkb:beta-glucocerebrosidase glucosylceramidase |
| gptkbp:associatedWith |
gptkb:Parkinson's_disease
gptkb:Gaucher_disease |
| gptkbp:encodes |
gptkb:glucocerebrosidase
|
| gptkbp:Entrez_Gene_ID |
2629
ENSG00000177628 |
| gptkbp:fullName |
glucosylceramidase beta 1
|
| gptkbp:function |
lysosomal enzyme
hydrolyzes glucocerebroside |
| gptkbp:HGNC_ID |
GBAl
|
| https://www.w3.org/2000/01/rdf-schema#label |
GBA1
|
| gptkbp:locatedOnChromosome |
1
1q21 |
| gptkbp:mutationAssociatedWith |
causes Gaucher disease
increases risk for Parkinson's disease |
| gptkbp:OMIM |
606463
|
| gptkbp:orthologInMouse |
gptkb:Gba
|
| gptkbp:UniProtID |
P04062
|
| gptkbp:bfsParent |
gptkb:GBA_gene
|
| gptkbp:bfsLayer |
7
|