Statements (25)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alsoKnownAs |
spastin gene
|
| gptkbp:associatedWith |
hereditary spastic paraplegia type 4
|
| gptkbp:discoveredIn |
1999
|
| gptkbp:encodes |
spastin protein
|
| gptkbp:Entrez_Gene_ID |
ENSG00000104936
|
| gptkbp:expressedIn |
gptkb:nervous_system
|
| gptkbp:function |
microtubule severing
|
| gptkbp:gene |
gptkb:SPG4
|
| gptkbp:HGNC_ID |
11102
|
| https://www.w3.org/2000/01/rdf-schema#label |
SPG4 gene
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:length |
17 exons
|
| gptkbp:locatedOnChromosome |
chromosome 2p22.3
|
| gptkbp:mutationAssociatedWith |
nonsense
missense frameshift splice site autosomal dominant hereditary spastic paraplegia |
| gptkbp:OMIM |
604277
|
| gptkbp:orthologInMouse |
Spg4
|
| gptkbp:proteinFamily |
gptkb:AAA_ATPase_family
|
| gptkbp:UniProtID |
Q9UBP0
|
| gptkbp:bfsParent |
gptkb:hereditary_spastic_paraplegia
|
| gptkbp:bfsLayer |
6
|