Aliases for SLC6A8 Gene
External Ids 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 (Neurotransmitter Transporter), Member 8) is a Protein Coding gene. Diseases associated with SLC6A8 include cerebral creatine deficiency syndrome 1 and creatine transporter deficiency. Among its related pathways are Metabolism and Metabolism of amino acids and derivatives. GO annotations related to this gene include neurotransmitter:sodium symporter activity and creatine transmembrane transporter activity. An important paralog of this gene is SLC6A4.
UniProtKB/Swiss-Prot for SLC6A8 Gene
Required for the uptake of creatine in muscles and brain