Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
Cystinosin
Cystinosis, nephropathic, gene for |
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
cystinosis
|
| gptkbp:discoveredIn |
1998
|
| gptkbp:encodes |
cystinosin
|
| gptkbp:Entrez_Gene_ID |
1497
|
| gptkbp:expressedIn |
gptkb:leukocytes
gptkb:kidney liver |
| gptkbp:function |
lysosomal cystine transporter
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
2511
|
| https://www.w3.org/2000/01/rdf-schema#label |
CTNS
|
| gptkbp:locatedOnChromosome |
gptkb:17p13
|
| gptkbp:mutationAssociatedWith |
gptkb:nephropathic_cystinosis
|
| gptkbp:OMIM |
606272
|
| gptkbp:orthologInMouse |
Ctns
|
| gptkbp:UniProtID |
O60931
|
| gptkbp:bfsParent |
gptkb:Center_for_Theology_and_the_Natural_Sciences
|
| gptkbp:bfsLayer |
8
|