Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:OCTN2
gptkb:solute_carrier_family_22_member_5 |
| gptkbp:associatedWith |
primary systemic carnitine deficiency
|
| gptkbp:encodes |
gptkb:OCTN2_protein
|
| gptkbp:Entrez_Gene_ID |
6584
|
| gptkbp:expressedIn |
gptkb:skeletal_muscle
gptkb:kidney heart |
| gptkbp:function |
carnitine transporter
|
| gptkbp:HGNC_ID |
10966
|
| https://www.w3.org/2000/01/rdf-schema#label |
SLC22A5
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_5
5q31 |
| gptkbp:mutationAssociatedWith |
systemic primary carnitine deficiency
|
| gptkbp:OMIM |
603377
|
| gptkbp:publicTransit |
organic cation/carnitine transporter
|
| gptkbp:UniProtID |
O76082
|
| gptkbp:bfsParent |
gptkb:chromosome_5
|
| gptkbp:bfsLayer |
5
|