Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:CT1
gptkb:OCTN2 |
| gptkbp:associatedWith |
gptkb:primary_carnitine_deficiency
|
| gptkbp:encodes |
gptkb:OCTN2_protein
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000138079
6584 |
| gptkbp:expressedIn |
gptkb:skeletal_muscle
gptkb:kidney heart |
| gptkbp:function |
carnitine transporter activity
|
| gptkbp:HGNC_ID |
10973
|
| https://www.w3.org/2000/01/rdf-schema#label |
SLC22A5 gene
|
| gptkbp:locatedOnChromosome |
5q31
|
| gptkbp:mutationAssociatedWith |
systemic primary carnitine deficiency
|
| gptkbp:OMIM |
603377
|
| gptkbp:species |
gptkb:Homo_sapiens
|
| gptkbp:transporterFamily |
gptkb:solute_carrier_family_22
|
| gptkbp:bfsParent |
gptkb:OCTN2_protein
gptkb:solute_carrier_family_22_member_5 |
| gptkbp:bfsLayer |
7
|