Statements (31)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:ARALAR2
gptkb:CITRIN gptkb:CTLN2 |
| gptkbp:associatedWith |
gptkb:citrullinemia_type_II
|
| gptkbp:discoveredIn |
1999
|
| gptkbp:encodes |
gptkb:citrin
|
| gptkbp:Entrez_Gene_ID |
10165
|
| gptkbp:expressedIn |
gptkb:kidney
heart liver |
| gptkbp:function |
gptkb:aspartate/glutamate_carrier
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
HGNC:10990
|
| https://www.w3.org/2000/01/rdf-schema#label |
SLC25A13
|
| gptkbp:length |
675 amino acids
|
| gptkbp:locatedOnChromosome |
plus
7q21.3 |
| gptkbp:mutationAssociatedWith |
gptkb:adult-onset_type_II_citrullinemia
gptkb:neonatal_intrahepatic_cholestasis_caused_by_citrin_deficiency |
| gptkbp:numberOfExons |
18
|
| gptkbp:OMIM |
603859
|
| gptkbp:orthologInMouse |
gptkb:Slc25a13
|
| gptkbp:pathway |
gptkb:urea_cycle
gptkb:malate-aspartate_shuttle amino acid metabolism |
| gptkbp:species |
gptkb:Homo_sapiens
|
| gptkbp:subcellularLocation |
mitochondrial inner membrane
|
| gptkbp:UniProtID |
Q9UJS0
|
| gptkbp:bfsParent |
gptkb:ENSG00000198947
|
| gptkbp:bfsLayer |
6
|