Statements (21)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:protein
|
gptkbp:alternativeName |
gptkb:Solute_carrier_family_25_member_13
gptkb:AGC2 |
gptkbp:associatedWith |
gptkb:citrullinemia_type_II
|
gptkbp:encodedBy |
gptkb:SLC25A13_gene
|
gptkbp:foundIn |
mitochondrial inner membrane
|
gptkbp:function |
gptkb:malate-aspartate_shuttle
gptkb:aspartate-glutamate_carrier |
https://www.w3.org/2000/01/rdf-schema#label |
Citrin protein
|
gptkbp:locale |
gptkb:kidney
heart liver |
gptkbp:locatedOnChromosome |
gptkb:chromosome_7q21.3
|
gptkbp:molecularWeight |
approximately 74 kDa
|
gptkbp:mutationAssociatedWith |
causes adult-onset type II citrullinemia
causes neonatal intrahepatic cholestasis |
gptkbp:organism |
gptkb:Homo_sapiens
|
gptkbp:transportSubstrate |
gptkb:aspartate
glutamate |
gptkbp:bfsParent |
gptkb:ENSG00000198001
|
gptkbp:bfsLayer |
7
|