|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
paraplegin
|
|
gptkbp:associatedWith
|
gptkb:hereditary_spastic_paraplegia
spastic paraplegia type 7
|
|
gptkbp:clinicalTrialPhase
|
available
|
|
gptkbp:discoveredIn
|
1998
|
|
gptkbp:encodes
|
paraplegin
|
|
gptkbp:Entrez_Gene_ID
|
6687
ENSG00000104413
|
|
gptkbp:expressedIn
|
mitochondria
|
|
gptkbp:fullName
|
spastic paraplegia 7 (pure and complicated autosomal recessive)
|
|
gptkbp:function
|
mitochondrial metalloprotease
|
|
gptkbp:gene
|
gptkb:SPG7
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
HGNC:11270
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
SPG7 gene
|
|
gptkbp:inheritance
|
autosomal recessive
|
|
gptkbp:length
|
17 exons
|
|
gptkbp:locatedOnChromosome
|
gptkb:16q24.3
16
|
|
gptkbp:mutationAssociatedWith
|
gptkb:optic_neuropathy
nonsense
missense
ataxia
frameshift
splice-site
progressive spasticity
|
|
gptkbp:OMIM
|
602783
|
|
gptkbp:orthologInMouse
|
Spg7
|
|
gptkbp:pathway
|
mitochondrial dynamics
mitochondrial protein quality control
|
|
gptkbp:proteinFamily
|
AAA protease family
|
|
gptkbp:UniProtID
|
O60309
|
|
gptkbp:bfsParent
|
gptkb:hereditary_spastic_paraplegia
|
|
gptkbp:bfsLayer
|
6
|