Statements (22)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alternativeName |
citrate transporter
solute carrier family 25 member 1 |
gptkbp:associatedWith |
citrate transport deficiency
combined D-2- and L-2-hydroxyglutaric aciduria |
gptkbp:encodes |
mitochondrial citrate transporter
|
gptkbp:Entrez_Gene_ID |
6576
ENSG00000100075 |
gptkbp:expressedIn |
mitochondria
|
gptkbp:function |
transports citrate and other tricarboxylates across mitochondrial membrane
|
gptkbp:HGNC_ID |
HGNC:10987
|
https://www.w3.org/2000/01/rdf-schema#label |
SLC25A1
|
gptkbp:locatedOnChromosome |
gptkb:22q11.21
|
gptkbp:mutationAssociatedWith |
metabolic disorder
|
gptkbp:OMIM |
600371
|
gptkbp:organism |
gptkb:Homo_sapiens
|
gptkbp:orthologInMouse |
Slc25a1
|
gptkbp:product |
Citrate carrier protein
|
gptkbp:RefSeq |
NM_005984
|
gptkbp:UniProtID |
P53007
|
gptkbp:bfsParent |
gptkb:solute_carrier_family
|
gptkbp:bfsLayer |
6
|