SLC26A3, DRA, Chloride anion exchanger, Down-regulated in adenoma, Protein DRA, Solute carrier family 26 member 3
The protein encoded by this gene is a transmembrane glycoprotein that transports chloride ions across the cell membrane in exchange for bicarbonate ions. It is localized to the mucosa of the lower intestinal tract, particularly to the apical membrane of columnar epithelium and some goblet cells. The protein is essential for intestinal chloride absorption, and mutations in this gene have been associated with congenital chloride diarrhea. [provided by RefSeq, Oct 2008],developmental stage:Expression is significantly decreased in adenomas (polyps) and adenocarcinomas of the colon.,disease:Defects in SLC26A3 are the cause of congenital chloride diarrhea (CLD) [MIM:214700]. CLD is a disease characterized by voluminous watery stools containing an excess of chloride. The children with this disease are often premature.,function:Chloride/bicarbonate exchanger. Involved in absorbtion of in the colon. Helps mediate electrolyte and fluid absorption.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,similarity:Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.,similarity:Contains 1 STAS domain.,subunit:Interacts with PDZK1.,
