Sodium- and chloride-dependent creatine transporter 1

Sodium- and Chloride-Dependent Creatine Transporter 1

Sodium- and chloride-dependent creatine transporter 1 (SLC6A8) is a protein that in humans is encoded by the SLC6A8 gene. This transporter is a member of the solute carrier family and is responsible for the transport of creatine into cells, utilizing the sodium and chloride ion gradient across the cell membrane.

Function

The primary function of the sodium- and chloride-dependent creatine transporter 1 is to facilitate the uptake of creatine into cells. Creatine is a crucial molecule involved in the storage and transmission of energy in cells, particularly in muscle and brain tissues. The transporter operates by coupling the movement of creatine with sodium and chloride ions, which are co-transported across the cell membrane.

Clinical Significance

Mutations in the SLC6A8 gene can lead to creatine transporter deficiency, a disorder that affects the transport of creatine into the brain and other tissues. This deficiency can result in a range of symptoms, including intellectual disability, developmental delay, and seizures.

Research and Therapeutic Implications

Research into the sodium- and chloride-dependent creatine transporter 1 has implications for understanding and potentially treating conditions related to creatine deficiency. Therapeutic strategies may involve gene therapy, creatine supplementation, or the development of drugs that can enhance or mimic the function of the transporter.

See Also

• Creatine metabolism
• Solute carrier family
• Creatine transporter deficiency

External Links

• Sodium- and chloride-dependent creatine transporter 1 on WikiMD