Statements (36)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alsoKnownAs |
gptkb:SPG4
|
| gptkbp:associatedWith |
gptkb:hereditary_spastic_paraplegia
|
| gptkbp:discoveredBy |
Hazan et al.
|
| gptkbp:discoveredIn |
1999
|
| gptkbp:encodes |
spastin
|
| gptkbp:Entrez_Gene_ID |
6683
ENSG00000104936 |
| gptkbp:expressedIn |
gptkb:nervous_system
|
| gptkbp:function |
microtubule severing
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
11102
|
| https://www.w3.org/2000/01/rdf-schema#label |
SPAST
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:locatedOnChromosome |
2p22.3
|
| gptkbp:mutationAssociatedWith |
nonsense
missense spasticity bladder dysfunction frameshift splice site lower limb weakness variable age of onset |
| gptkbp:OMIM |
604277
|
| gptkbp:orthologIn |
gptkb:entomologist
gptkb:mouse gptkb:zebrafish |
| gptkbp:proteinFamily |
AAA ATPase
|
| gptkbp:relatedTo |
neuronal function
axon maintenance |
| gptkbp:UniProtID |
Q9UBP0
|
| gptkbp:bfsParent |
gptkb:ORPHA729
gptkb:ORPHA774 gptkb:ORPHA399 gptkb:SPG4 |
| gptkbp:bfsLayer |
7
|