SLC26A3
Description
The SLC26A3 (solute carrier family 26 member 3) is a protein-coding gene located on chromosome 7.
SLC26A3, also known as down-regulated in adenoma (DRA), is a protein encoded by the SLC26A3 gene in humans. It is a membrane protein found in intestinal cells, where it acts as an anion exchanger, exchanging chloride and bicarbonate ions. SLC26A3 also transports sulfate and other anions at the apical membrane of enterocytes. It plays a crucial role in chloride reabsorption in the intestines, helping maintain fluid balance. Mutations in the SLC26A3 gene are linked to congenital chloride diarrhea, a treatable disease. The absence of this protein causes an autosomal recessive disorder known as congenital chloridorrhea or congenital chloride diarrhea (CLD).
SLC26A3 mediates the exchange of chloride and bicarbonate ions in a 2:1 ratio within the intestinal epithelium. This process is essential for maintaining proper chloride and bicarbonate balance during sperm maturation and capacitation. SLC26A3 interacts with CFTR, SLC26A6 and NHERF1, as well as PDZK1 and NHERF4 (via PDZ-binding motif). Interaction with NHERF4 leads to decreased expression of SLC26A3 on the cell membrane, reducing its exchanger activity.
SLC26A3 is also known as CLD, DRA.
