Statements (14)
| 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
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:locatedOnChromosome |
2p22.3
|
| gptkbp:mutationAssociatedWith |
spastic paraplegia type 4
|
| gptkbp:OMIM |
604277
|
| gptkbp:bfsParent |
gptkb:ORPHA729
gptkb:Hereditary_spastic_paraplegia |
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
SPG4
|