CLCNKB Gene
The CLCNKB gene belongs to the CLC family of genes, which provide instructions for making chloride channels. These channels, which transport negatively charged chlorine atoms, play a key role in a cell’s ability to generate and transmit electrical signals. More than 30 mutations in the CLCNKB gene have been identified in people with Bartter syndrome type III. A loss of functional ClC-Kb channels impairs the transport of chloride ions in the kidneys. As a result, the kidneys cannot reabsorb salt normally and excess salt is lost through the urine. The abnormal salt loss disrupts the normal balance of ions in the body.
