Sodium- and chloride-dependent creatine transporter 1

Sodium- and chloride-dependent creatine transporter 1 (also known as SLC6A8) is a protein that in humans is encoded by the SLC6A8 gene. It is a member of the solute carrier family 6 and is primarily responsible for the active transport of creatine into and out of cells.

Function

Creatine is a naturally occurring amino acid that plays a crucial role in the production of energy in the body. The sodium- and chloride-dependent creatine transporter 1 (SLC6A8) is responsible for the uptake of creatine into cells. This transporter uses the electrochemical gradient of sodium and chloride ions to drive the transport of creatine across the cell membrane.

Structure

The SLC6A8 protein is a transmembrane protein, meaning it spans the entire width of the cell membrane. It is composed of 12 transmembrane domains with both the N- and C-termini located intracellularly. The protein also contains several sites for potential phosphorylation, glycosylation, and palmitoylation.

Clinical significance

Mutations in the SLC6A8 gene can lead to creatine transporter deficiency (CTD), a rare X-linked disorder characterized by mental retardation, speech and language delay, and behavioral disorders. Diagnosis of CTD is typically made through the detection of elevated creatine levels in the urine and reduced creatine levels in the brain via magnetic resonance spectroscopy.

Research

Research into the function and structure of SLC6A8 is ongoing, with a particular focus on understanding the molecular mechanisms of creatine transport and the impact of SLC6A8 mutations on creatine metabolism.

File:SLC6A8.png

Structure of the SLC6A8 protein.

See also

• Solute carrier family
• Creatine transporter deficiency
• Creatine