Anti-SLC6A8 antibody

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

SLC6A8 also known as the creatine transporter 1 (CRT1) is a protein that mediates the transport of creatine across the plasma membrane. It belongs to the solute carrier family 6 (SLC6) and has a mass of approximately 70 kDa. You can find SLC6A8 expressed widely in the brain skeletal muscles heart and kidneys where it plays a fundamental role in cellular energy homeostasis. The protein operates by utilizing the sodium and chloride gradients to facilitate creatine uptake which is critical for energy storage and supply in cells.

Biological function summary

This protein provides creatine for phosphate buffering and energy recycling in tissues with high-energy demands. SLC6A8 forms part of a complex that collaborates closely with creatine kinase enzymes enabling the maintenance of ATP levels in energy-intensive cells. Creatine uptake is essential for maintaining energy balance and SLC6A8 ensures that cells receive an adequate supply of creatine for their needs.

Pathways

SLC6A8 plays an integral role in the creatine biosynthesis and transport pathway. Its proper functioning is important for pathways involving energy metabolism particularly the phosphocreatine shuttle which connects it with creatine kinases. SLC6A8 is also part of the broader metabolic network interacting with other transporters and proteins involved in cellular energy dynamics ensuring efficient regulation of energy resources within cells.

Associated diseases and disorders

Disruptions in SLC6A8 function can lead to conditions such as creatine transporter deficiency and X-linked creatine deficiency syndrome. These conditions often result in impaired cognitive development seizures and muscle weakness primarily due to insufficient creatine transport into the brain and muscles. In these disorders SLC6A8's interaction with the creatine kinase and other related enzymes proves significant emphasizing the importance of its proper function in avoiding such energy metabolism disorders.