Citrin

URI: https://gptkb.org/entity/Citrin
GPTKB entity
Statements (15)
Predicate Object
gptkbp:instanceOf gptkb:protein
gptkbp:alternativeName gptkb:solute_carrier_family_25_member_13
gptkb:AGC2
gptkbp:associatedWith gptkb:citrullinemia_type_II
gptkbp:discoveredIn 1999
gptkbp:encodedBy gptkb:SLC25A13_gene
gptkbp:foundIn mitochondria
gptkbp:function gptkb:aspartate-glutamate_carrier
https://www.w3.org/2000/01/rdf-schema#label Citrin
gptkbp:locatedOnGene gptkb:chromosome_7q21.3
gptkbp:mutationAssociatedWith gptkb:adult-onset_type_II_citrullinemia
gptkb:neonatal_intrahepatic_cholestasis_caused_by_citrin_deficiency
gptkbp:presentIn humans
gptkbp:bfsParent gptkb:ENSG00000198947
gptkbp:bfsLayer 6