Gene Symbol | SLC26A3 |
Entrez Gene ID | 1811 |
Full Name | solute carrier family 26 member 3 |
Synonyms | CLD,DRA |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(Human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Diarrhea 1, secretory chloride, congenital, 214700 (3) |