SLC12A6

The SLC12A6 gene provides instructions for making a protein called a K-Cl cotransporter. This protein is involved in moving charged atoms (ions) of potassium (K) and chlorine (Cl) across the cell membrane. The positively charged potassium ions and negatively charged chlorine ions are moved together (cotransported), so that the charges inside and outside the cell membrane are unchanged (electroneutral).

Electroneutral cotransport of ions across cell membranes is involved in many functions of the body. While the specific function of the K-Cl cotransporter produced from the SLC12A6 gene is unknown, it seems to be critical for the development and maintenance of nerve tissue. It may be involved in regulating the amounts of potassium, chlorine, or water in cells and intercellular spaces. The K-Cl cotransporter protein may also help regulate the activity of other proteins that are sensitive to ion concentrations.

Andermann syndrome - caused by mutations in the SLC12A6 gene

At least six SLC12A6 gene mutations have been identified in people with Andermann syndrome. Almost all affected individuals of French-Canadian descent have the same mutation in both copies of the SLC12A6 gene, in which the DNA building block (nucleotide) guanine is deleted at position 2436 (written as 2436delG). This mutation is common in the populations of the Saguenay-Lac-St.-Jean and Charlevoix regions of northeastern Quebec. Most SLC12A6 gene mutations that cause Andermann syndrome result in a K-Cl cotransporter protein that is shortened and nonfunctional.

The lack of functional protein produced from the SLC12A6 gene is believed to interfere with the development of the corpus callosum and maintenance of the nerves that transmit signals needed for movement and sensation, resulting in the signs and symptoms of Andermann syndrome.