solute carrier family 6 member 8 protein
GPTKB entity
Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:protein
|
| gptkbp:alternativeName |
gptkb:CT1
creatine transporter 1 |
| gptkbp:associatedWith |
gptkb:creatine_transporter_deficiency
|
| gptkbp:encodedBy |
SLC6A8 gene
|
| gptkbp:expressedIn |
gptkb:skeletal_muscle
gptkb:kidney brain |
| gptkbp:foundIn |
gptkb:Homo_sapiens
|
| gptkbp:function |
creatine transporter
|
| https://www.w3.org/2000/01/rdf-schema#label |
solute carrier family 6 member 8 protein
|
| gptkbp:locatedOnChromosome |
gptkb:Xq28
|
| gptkbp:location |
gptkb:cell_membrane
|
| gptkbp:memberOf |
gptkb:solute_carrier_family_6
|
| gptkbp:mutationAssociatedWith |
X-linked creatine deficiency syndrome
|
| gptkbp:OMIM |
300036
|
| gptkbp:transportation |
gptkb:creatine
chloride ions sodium ions |
| gptkbp:UniProtID |
O60361
|
| gptkbp:bfsParent |
gptkb:SLC6A8
|
| gptkbp:bfsLayer |
7
|