Statements (18)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alternativeName |
gptkb:ACY2
gptkb:Aspartoacylase |
gptkbp:associatedWith |
gptkb:Canavan_disease
|
gptkbp:encodes |
gptkb:aspartoacylase
|
gptkbp:Entrez_Gene_ID |
443
|
gptkbp:expressedIn |
brain
|
gptkbp:function |
catalyzes the hydrolysis of N-acetyl-L-aspartic acid
|
gptkbp:HGNC_ID |
gptkb:HGNC:756
|
https://www.w3.org/2000/01/rdf-schema#label |
ASPA gene
|
gptkbp:locatedOnChromosome |
gptkb:17p13.2
|
gptkbp:mutationAssociatedWith |
leads to Canavan disease
|
gptkbp:OMIM |
608034
|
gptkbp:organism |
gptkb:Homo_sapiens
|
gptkbp:orthologInMouse |
gptkb:Aspa
|
gptkbp:UniProtID |
gptkb:P45381
|
gptkbp:bfsParent |
gptkb:Canavan_disease
|
gptkbp:bfsLayer |
5
|