Statements (24)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:enzyme
|
gptkbp:alternativeName |
gptkb:glucocerebrosidase
|
gptkbp:associatedWith |
gptkb:Gaucher_disease
|
gptkbp:CASNumber |
9001-22-3
|
gptkbp:cofactor |
none required
|
gptkbp:deficiencyCauses |
gptkb:Gaucher_disease
|
gptkbp:EC_number |
3.2.1.45
|
gptkbp:function |
hydrolyzes glucocerebroside into glucose and ceramide
|
gptkbp:gene |
gptkb:GBA
|
https://www.w3.org/2000/01/rdf-schema#label |
acid beta-glucosidase
|
gptkbp:locatedOnChromosome |
1q21
|
gptkbp:location |
gptkb:lysosome
|
gptkbp:molecularWeight |
approximately 59 kDa
|
gptkbp:OMIM |
606463
|
gptkbp:organism |
gptkb:human
|
gptkbp:product |
glucose
ceramide |
gptkbp:structure |
monomeric glycoprotein
|
gptkbp:substrate |
gptkb:glucocerebroside
|
gptkbp:UniProtID |
P04062
|
gptkbp:used_in |
diagnosis of Gaucher disease
|
gptkbp:bfsParent |
gptkb:GBA_gene
gptkb:glucocerebrosidase |
gptkbp:bfsLayer |
7
|