Aliases for SLC6A8 Gene
External Ids for SLC6A8 Gene
Previous GeneCards Identifiers for SLC6A8 Gene
The protein encoded by this gene is a plasma membrane protein whose function is to transport creatine into and out of cells. Defects in this gene can result in X-linked creatine deficiency syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
GeneCards Summary for SLC6A8 Gene
SLC6A8 (Solute Carrier Family 6 Member 8) is a Protein Coding gene. Diseases associated with SLC6A8 include Cerebral Creatine Deficiency Syndrome 1 and Cerebral Creatine Deficiency Syndrome. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and NRF2 pathway. Gene Ontology (GO) annotations related to this gene include neurotransmitter:sodium symporter activity and creatine:sodium symporter activity. An important paralog of this gene is ENSG00000273554.
UniProtKB/Swiss-Prot Summary for SLC6A8 Gene
Required for the uptake of creatine in muscles and brain.