Statements (24)
| 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
|
| gptkbp:locatedOnChromosome |
gptkb:22q11.21
|
| gptkbp:mutationAssociatedWith |
gptkb: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:22q11.21
gptkb:MMYC gptkb:solute_carrier_family_25 |
| gptkbp:bfsLayer |
8
|
| https://www.w3.org/2000/01/rdf-schema#label |
SLC25A1
|