SLC6A8

URI: https://gptkb.org/entity/SLC6A8
GPTKB entity
Statements (23)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alternativeName gptkb:CT1
gptkb:CRT
gptkbp:associatedWith gptkb:creatine_transporter_deficiency
gptkbp:discoveredIn 1998
gptkbp:encodes gptkb:solute_carrier_family_6_member_8_protein
gptkbp:Entrez_Gene_ID 6535
gptkbp:expressedIn gptkb:skeletal_muscle
gptkb:kidney
brain
gptkbp:foundIn gptkb:Homo_sapiens
gptkbp:function creatine transporter activity
gptkbp:HGNC_ID 11052
https://www.w3.org/2000/01/rdf-schema#label SLC6A8
gptkbp:locatedOnChromosome X
gptkbp:mutationAssociatedWith gptkb:X-linked_creatine_transporter_deficiency
gptkbp:OMIM 300036
gptkbp:orthologInMouse gptkb:Slc6a8
gptkbp:proteinFamily gptkb:solute_carrier_family
gptkbp:publicTransit sodium- and chloride-dependent transporter
gptkbp:UniProtID gptkb:P48029
gptkbp:bfsParent gptkb:Xq28
gptkbp:bfsLayer 6