SLC6A6
SLC6A6 is a gene that encodes a protein belonging to the solute carrier family 6, member 6. This protein functions as a sodium- and chloride-dependent neurotransmitter transporter. Specifically, it is known to transport taurine, an amino acid that plays a role in various physiological processes including osmoregulation, antioxidant defense, and neuromodulation. The SLC6A6 transporter is primarily expressed in the brain, but also found in other tissues such as the kidney and liver. Its activity is crucial for maintaining intracellular taurine concentrations and for regulating extracellular taurine levels. Disruptions in SLC6A6 function have been implicated in neurological disorders, although the exact mechanisms are still under investigation. Research has shown that mutations in the SLC6A6 gene can lead to impaired taurine transport, potentially affecting neuronal function and development. The transporter's role in amino acid homeostasis and neurotransmission makes it a subject of ongoing scientific interest for understanding normal brain function and the pathophysiology of related diseases.