SLC12A9
Exploring the SLC12A9 Gene: A Transporter of Untold Significance
Description
The SLC12A9 gene, located on chromosome 15, encodes a membrane protein that plays a crucial role in the transport of potassium and chloride ions across cell membranes. This protein, known as the potassium-chloride cotransporter 3, is essential for maintaining proper fluid and electrolyte balance within cells and tissues.
Associated Diseases
Mutations in the SLC12A9 gene have been linked to several genetic disorders:
- Gitelman Syndrome: A rare inherited disorder characterized by hypokalemia (low potassium levels), metabolic alkalosis, and hypomagnesemia (low magnesium levels). Gitelman syndrome is caused by mutations that impair the function of the potassium-chloride cotransporter, leading to excessive potassium loss in the urine.
- Bartter Syndrome Type III: Another inherited disorder that affects the kidneys‘ ability to reabsorb salt and water. Mutations in SLC12A9 can cause Bartter syndrome type III, leading to hypokalemia, metabolic alkalosis, and decreased blood pressure.
Did you Know ?
Approximately 1 in 40,000 people worldwide are estimated to have Gitelman syndrome, while Bartter syndrome type III is much rarer, affecting approximately 1 in 1,000,000 individuals.
