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SLC25A13 gene
URI:
https://gptkb.org/entity/SLC25A13_gene
GPTKB entity
Statements (26)
Predicate
Object
gptkbp:instanceOf
gptkb:gene
gptkbp:alias
gptkb:CITRIN
gptkb:CTLN2
gptkbp:associatedWith
gptkb:adult-onset_type_II_citrullinemia
gptkb:citrullinemia_type_II
gptkbp:discoveredIn
1999
gptkbp:encodes
gptkb:citrin_protein
gptkbp:Entrez_Gene_ID
10165
gptkbp:expressedIn
gptkb:kidney
heart
liver
gptkbp:function
gptkb:aspartate/glutamate_carrier
gptkbp:HGNC_ID
HGNC:10990
https://www.w3.org/2000/01/rdf-schema#label
SLC25A13 gene
gptkbp:locatedOnChromosome
gptkb:chromosome_7
7q21.3
gptkbp:mutationAssociatedWith
metabolic disorder
gptkbp:OMIM
603859
gptkbp:orthologInMouse
gptkb:Slc25a13
gptkbp:proteinFamily
gptkb:solute_carrier_family_25
gptkbp:UniProtID
Q9UJS0
gptkbp:bfsParent
gptkb:Citrin
gptkb:Citrullinemia_type_II
gptkb:citrin
gptkb:Q9BVC4
gptkbp:bfsLayer
7