Q9NZJ5

URI: https://gptkb.org/entity/Q9NZJ5
GPTKB entity
Statements (30)
Predicate Object
gptkbp:instanceOf gptkb:protein
gptkbp:alternativeName gptkb:Citrin
gptkb:Solute_carrier_family_25_member_13
gptkbp:associatedWith gptkb:Citrin_deficiency
gptkb:Neonatal_intrahepatic_cholestasis_caused_by_citrin_deficiency_(NICCD)
Adult-onset citrullinemia type II (CTLN2)
gptkbp:Entrez_Gene_ID 10165
ENSP00000369497
gptkbp:enzymeCommissionNumber --
gptkbp:evidence_at_protein_level yes
gptkbp:function gptkb:aspartate-glutamate_carrier
involved in urea cycle
gptkbp:gene gptkb:SLC25A13
gptkbp:hasIsoform 2
https://www.w3.org/2000/01/rdf-schema#label Q9NZJ5
gptkbp:length 675
gptkbp:locatedOnChromosome 7q21.3
chromosome 7: 127,944,000-128,012,000 (GRCh38)
gptkbp:molecularWeight 74,000
gptkbp:mutationAssociatedWith mutations cause citrin deficiency
gptkbp:organism gptkb:Homo_sapiens
gptkbp:pathway gptkb:urea_cycle
amino acid metabolism
gptkbp:protein_name gptkb:Calcium-binding_mitochondrial_carrier_protein_Aralar2
gptkbp:sequenceStatus reviewed
gptkbp:subcellularLocation mitochondrial inner membrane
gptkbp:UniProtID gptkb:Q9NZJ5
gptkbp:bfsParent gptkb:PPP1R15A
gptkb:PERK
gptkbp:bfsLayer 7