SLC26A3
溶质载体家族26成员3
solute carrier family 26 member 3
该基因编码的蛋白质是跨膜糖蛋白,可跨细胞膜转运氯离子,以交换碳酸氢根离子。它位于下肠道粘膜,特别是柱状上皮的顶膜和一些杯状细胞。该蛋白质对于肠道氯化物的吸收至关重要,该基因的突变与先天性氯化物腹泻有关。[由RefSeq提供,2008年10月]
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]