Statements (13)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alsoKnownAs |
gptkb:SPAST
|
gptkbp:associatedWith |
gptkb:hereditary_spastic_paraplegia
|
gptkbp:discoveredIn |
1999
|
gptkbp:encodes |
spastin
|
gptkbp:function |
microtubule severing
|
https://www.w3.org/2000/01/rdf-schema#label |
SPG4
|
gptkbp:inheritance |
autosomal dominant
|
gptkbp:locatedOnChromosome |
2p22.3
|
gptkbp:mutationAssociatedWith |
spastic paraplegia type 4
|
gptkbp:OMIM |
604277
|
gptkbp:bfsParent |
gptkb:Hereditary_spastic_paraplegia
|
gptkbp:bfsLayer |
6
|