|
gptkbp:instanceOf
|
gptkb:protein
|
|
gptkbp:alternativeName
|
gptkb:Citrin
|
|
gptkbp:associatedWith
|
gptkb:Citrin_deficiency
gptkb:Neonatal_intrahepatic_cholestasis_caused_by_citrin_deficiency_(NICCD)
Adult-onset citrullinemia type II (CTLN2)
|
|
gptkbp:Entrez_Gene_ID
|
ENSP00000361624
|
|
gptkbp:expressedIn
|
gptkb:kidney
heart
liver
pancreas
|
|
gptkbp:function
|
gptkb:aspartate-glutamate_carrier
|
|
gptkbp:gene
|
gptkb:SLC25A13
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:10988
|
|
gptkbp:length
|
675
|
|
gptkbp:locatedOnChromosome
|
7q21.3
ENSG00000104217
|
|
gptkbp:molecularWeight
|
74,000
|
|
gptkbp:mutationAssociatedWith
|
gptkb:metabolic_disorder
|
|
gptkbp:OMIM
|
603859
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Slc25a13
|
|
gptkbp:PDB
|
6GCI
|
|
gptkbp:protein_name
|
gptkb:Calcium-binding_mitochondrial_carrier_protein_Aralar2
|
|
gptkbp:publicTransit
|
mitochondrial carrier family (SLC25)
|
|
gptkbp:RefSeq
|
NP_004561.2
|
|
gptkbp:subcellularLocation
|
mitochondrial inner membrane
|
|
gptkbp:transmembraneDomains
|
6
|
|
gptkbp:UniProtID
|
gptkb:Q9Y484
|
|
gptkbp:bfsParent
|
gptkb:KLF11
|
|
gptkbp:bfsLayer
|
8
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Q9Y484
|