|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:AGC1
gptkb:Aralar1
|
|
gptkbp:associatedWith
|
gptkb:autism_spectrum_disorder
epilepsy
|
|
gptkbp:encodes
|
gptkb:calcium-binding_mitochondrial_carrier_protein_Aralar1
|
|
gptkbp:Entrez_Gene_ID
|
10162
ENSG00000128573
|
|
gptkbp:expressedIn
|
brain
|
|
gptkbp:fullName
|
gptkb:solute_carrier_family_25_member_12
|
|
gptkbp:function
|
gptkb:mitochondrial_aspartate-glutamate_carrier
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:10988
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
SLC25A12
|
|
gptkbp:locatedOnChromosome
|
chromosome 2
2q24.3
|
|
gptkbp:mutationAssociatedWith
|
can cause global cerebral hypomyelination
|
|
gptkbp:OMIM
|
603667
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Slc25a12
|
|
gptkbp:pathway
|
gptkb:malate-aspartate_shuttle
|
|
gptkbp:product
|
gptkb:Aralar1
|
|
gptkbp:subcellularLocation
|
mitochondrial inner membrane
|
|
gptkbp:transportation
|
gptkb:proton
gptkb:aspartate
glutamate
|
|
gptkbp:UniProtID
|
gptkb:Q9BQT8
|
|
gptkbp:bfsParent
|
gptkb:mitochondrial_aspartate-glutamate_carrier
gptkb:Alzheimer's_disease_pathway
gptkb:SLC_family
|
|
gptkbp:bfsLayer
|
7
|