SLC12A3 Gene
The SLC12A3 gene provides instructions for making a protein known as NCC. This protein is a sodium chloride co-transporter, which means that it moves ions of sodium (Na+) and chlorine (Cl-) across cell membranes. The NCC protein is essential for normal kidney function. It is part of the mechanism by which kidneys reabsorb salt from the urine back into the bloodstream. The retention of salt affects the body’s fluid levels and helps maintain blood pressure. Mutations in this gene cause Gitelman syndrome, a disease similar to Bartter’s syndrome, that is characterized by hypokalemic alkalosis combined with hypomagnesemia, low urinary calcium, and increased renin activity associated with blood pressure.
