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  • Human SLC6A8 wild-type allele is located in the vicinity of Xq28 and is approximately 8 kb in length. This allele, which encodes sodium- and chloride-dependent creatine transporter 1 protein, is involved in muscle cell physiology and creatine/phosphocreatine transport. Alterations of the gene are associated with X-linked creatine deficiency syndrome.
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