Anti-SLC6A8

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] Protein function: Creatine:sodium symporter which mediates the uptake of creatine (PubMed:7953292, PubMed:7945388, PubMed:9882430, PubMed:17465020, PubMed:22644605, PubMed:25861866). Plays an important role in supplying creatine to the brain via the blood-brain barrier. [The UniProt Consortium]