C153431Level 5
SLC6A8 wt Allele
**Semantic type:** Gene or Genome
**Definition:** 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.
**Synonyms:** - CCDS1 - CRT - CRTR - CT1 - CTR5 - Solute Carrier Family 6 (Neurotransmitter Transporter), Member 8 Gene - Solute Carrier Family 6 (Neurotransmitter Transporter, Creatine), Member 8 Gene - Solute Carrier Family 6 Member 8 wt Allele
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Cross-system equivalences0
No cross-system equivalences mapped for this node.