CLCN3

CLCN3 is a gene that provides instructions for making a protein called a chloride channel. This protein is a member of the Cys-loop ligand-gated ion channel superfamily and plays a role in transporting chloride ions across cell membranes. Chloride ions are essential for many cellular processes, including maintaining the electrical charge across cell membranes, regulating cell volume, and facilitating the transport of other molecules. The CLCN3 protein is found in various tissues throughout the body, including the brain, kidneys, and lungs. It is thought to be involved in neurotransmission, kidney function, and potentially other physiological processes. Mutations in the CLCN3 gene have been linked to certain medical conditions. For example, some variations in this gene have been associated with familial hypercholesterolemia, a genetic disorder that causes high levels of cholesterol in the blood. Research is ongoing to fully understand the diverse functions of CLCN3 and the implications of its alterations in human health.