SLC26A11
The SLC26A11 Gene: A Vital Player in Anion Transport
Description
The SLC26A11 gene, found on chromosome 7q31.1, encodes a protein known as solute carrier family 26, member 11 (SLC26A11). This protein is a membrane transporter responsible for mediating the exchange of chloride and sulfate ions across cell membranes. It is primarily expressed in the gastrointestinal tract, particularly in the stomach and small intestine.
Associated Diseases
Mutations in the SLC26A11 gene have been linked to two rare digestive disorders:
- Bartter Syndrome Type IV: A genetic condition characterized by low blood pressure, high blood pH, and impaired kidney function due to defects in salt reabsorption.
- Congenital Chloride Diarrhea (CLD): A rare inherited disorder that leads to severe diarrhea and dehydration due to impaired chloride absorption in the intestines.
Did you Know ?
Approximately 1 in 50,000 individuals are affected by CLD, highlighting the rarity of SLC26A11 gene mutations.
