SLC9A3R1
Title: Unraveling the Mysteries of the SLC9A3R1 Gene
Description:
The SLC9A3R1 gene plays a crucial role in maintaining the balance of sodium and hydrogen ions in our cells. It encodes a protein that transports these ions across the cell membrane, ensuring optimal cellular function. Mutations in this gene can lead to various medical conditions, highlighting its significance in human health.
Associated Diseases:
Mutations in the SLC9A3R1 gene have been linked to the following diseases:
- Gitelman Syndrome: A rare kidney disorder characterized by low blood potassium and magnesium levels, causing muscle weakness and fatigue.
- Bartter Syndrome: Another kidney disorder that involves salt loss, leading to dehydration, muscle cramps, and stunted growth.
- Renal Magnesium Wasting: A condition where the kidneys are unable to absorb magnesium, resulting in low magnesium levels and muscle weakness.
Did you Know ?
- Mutations in the SLC9A3R1 gene are estimated to occur in approximately 1 in 40,000 people worldwide.
