Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
paraplegin
|
| gptkbp:associatedWith |
gptkb:hereditary_spastic_paraplegia
|
| gptkbp:encodes |
paraplegin
|
| gptkbp:Entrez_Gene_ID |
6687
|
| gptkbp:expressedIn |
mitochondria
|
| gptkbp:fullName |
spastic paraplegia 7 (pure and complicated autosomal recessive)
|
| gptkbp:function |
mitochondrial metalloprotease
|
| gptkbp:HGNC_ID |
HGNC:11290
|
| https://www.w3.org/2000/01/rdf-schema#label |
SPG7
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:locatedOnChromosome |
gptkb:16q24.3
|
| gptkbp:mutationAssociatedWith |
spastic paraplegia type 7
|
| gptkbp:OMIM |
602783
|
| gptkbp:orthologInMouse |
Spg7
|
| gptkbp:UniProtID |
O60290
|
| gptkbp:bfsParent |
gptkb:Hereditary_spastic_paraplegia
|
| gptkbp:bfsLayer |
6
|