Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:SLC25A13
|
| gptkbp:associatedWith |
gptkb:citrullinemia_type_II
|
| gptkbp:discoveredBy |
gptkb:Takeshi_Kobayashi
|
| gptkbp:discoveredIn |
1999
|
| gptkbp:encodes |
gptkb:citrin_protein
|
| gptkbp:Entrez_Gene_ID |
10165
|
| gptkbp:expressedIn |
gptkb:kidney
heart liver |
| gptkbp:fullName |
citrullinemia type II (citrin) gene
|
| gptkbp:function |
aspartate/glutamate carrier in mitochondria
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
HGNC:10987
|
| https://www.w3.org/2000/01/rdf-schema#label |
CTLN2
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_7
|
| gptkbp:mutationAssociatedWith |
gptkb:adult-onset_type_II_citrullinemia
neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) |
| gptkbp:OMIM |
603471
|
| gptkbp:orthologInMouse |
gptkb:Slc25a13
|
| gptkbp:UniProtID |
Q9UJS0
|
| gptkbp:bfsParent |
gptkb:Citrullinemia_type_II
gptkb:SLC25A13 gptkb:Q9Y2H7 gptkb:ENSG00000198909 |
| gptkbp:bfsLayer |
7
|