gptkbp:instanceOf
|
gptkb:gene
|
gptkbp:alias
|
gptkb:HHH_syndrome_protein
gptkb:ORNT1
|
gptkbp:associatedWith
|
gptkb:hyperornithinemia-hyperammonemia-homocitrullinuria_syndrome
|
gptkbp:encodes
|
gptkb:ornithine_transporter,_mitochondrial
|
gptkbp:Entrez_Gene_ID
|
10166
|
gptkbp:expressedIn
|
gptkb:kidney
liver
pancreas
|
gptkbp:function
|
mitochondrial ornithine transporter activity
|
gptkbp:HGNC_ID
|
HGNC:10990
|
https://www.w3.org/2000/01/rdf-schema#label
|
SLC25A15
|
gptkbp:locatedOnChromosome
|
X
|
gptkbp:location
|
gptkb:Xq28
|
gptkbp:mutationAssociatedWith
|
gptkb:urea_cycle_disorder
|
gptkbp:OMIM
|
300131
|
gptkbp:orthologInMouse
|
gptkb:Slc25a15
|
gptkbp:proteinFamily
|
gptkb:solute_carrier_family_25
|
gptkbp:species
|
gptkb:Homo_sapiens
|
gptkbp:UniProtID
|
O43837
|
gptkbp:bfsParent
|
gptkb:Alzheimer's_disease_pathway
gptkb:SLC_family
|
gptkbp:bfsLayer
|
7
|