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SLC6A8 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.
Gene Name: | solute carrier family 6 (neurotransmitter transporter), member 8 |
Family/Subfamily: | Transporter , Neurotransmitter:sodium symporter |
Synonyms: | SLC6A8, Creatine transporter 1, Creatine transporter SLC6A8, CRTR, CT1, CRT |
Target Sequences: | NM_005629 NP_005620.1 P48029 |
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