Statements (28)
Predicate | Object |
---|---|
gptkbp:instanceOf |
Ensembl gene ID
|
gptkbp:alternativeName |
gptkb:Solute_carrier_family_25_member_13
|
gptkbp:associatedWith |
gptkb:Citrin_deficiency
Adult-onset type II citrullinemia Neonatal intrahepatic cholestasis caused by citrin deficiency |
gptkbp:encodes |
gptkb:SLC25A13
|
gptkbp:function |
aspartate/glutamate carrier in mitochondria
|
gptkbp:gene |
gptkb:SLC25A13
|
gptkbp:geneType |
protein_coding
|
gptkbp:hasTranscript |
ENST00000357008
ENST00000418362 ENST00000418363 ENST00000418364 |
gptkbp:HGNC_ID |
HGNC:10987
|
https://www.w3.org/2000/01/rdf-schema#label |
ENSG00000198198
|
gptkbp:locatedOnChromosome |
gptkb:chromosome_7
|
gptkbp:OMIM |
603859
|
gptkbp:organism |
gptkb:Homo_sapiens
|
gptkbp:product |
gptkb:Citrin
|
gptkbp:startPoint |
96112281
96156313 |
gptkbp:strand |
reverse
|
gptkbp:UniProtID |
Q9UJS0
|
gptkbp:bfsParent |
gptkb:TP53TG10
gptkb:TP53TG16 gptkb:TP53TG23 gptkb:TP53TG6 |
gptkbp:bfsLayer |
8
|