Journal
BIOCHEMISTRY AND CELL BIOLOGY
Volume 84, Issue 6, Pages 949-959Publisher
CANADIAN SCIENCE PUBLISHING
DOI: 10.1139/O06-200
Keywords
membrane proteins; trafficking; kidney disease; anion exchanger
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Kidney anion exchanger 1 (kAE1) is a membrane glycoprotein expressed at the basolateral membrane of type A intercalated cells in the kidney collecting tubule. Mutations occurring in the gene encoding this protein can give rise to distal renal tubular acidosis (dRTA), a disease characterized by an impaired urine acidification, nephrocalcinosis, and renal failure. Here we review how the study of dRTA mutants in polarized epithelial cells has shed light on the cellular mechanisms resulting in this renal disease.
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