SLC6A8
SLC6A8 is a gene that provides instructions for making a protein known as a sodium-dependent creatine transporter. This protein is primarily found in the brain and plays a crucial role in transporting creatine, a molecule important for energy production in cells. Proper functioning of SLC6A8 is essential for maintaining energy levels in neurons.
Mutations in the SLC6A8 gene can lead to a condition called creatine transporter deficiency, which can result in developmental delays, intellectual disability, and other neurological issues. Understanding SLC6A8 is important for researchers studying energy metabolism in the brain and related disorders.