Article
Congenital chloride-losing diarrhea causing mutations in the STAS domain result in misfolding and mistrafficking of SLC26A3.
The Journal of biological chemistry - 28 Mar 2008
Dorwart Michael R, Shcheynikov Nikolay, Baker Jennifer M R, Forman-Kay Julie D, Muallem Shmuel, Thomas Philip J
Abstract excerpt
Congenital chloride-losing diarrhea (CLD) is a genetic disorder causing watery stool and dehydration. Mutations in SLC26A3 (solute carrier 26 family member 3), which functions as a coupled Cl(-)/HCO(3)(-) exchanger, cause CLD. SLC26A3 is a membrane protein predicted to contain 12 transmembrane-spanning alpha-helices and a C-terminal STAS (sulfate transporters and anti-sigma-factor) domain homologous to the...
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