Article
Cation transport activity of anion exchanger 1 mutations found in inherited distal renal tubular acidosis.
American journal of physiology. Renal physiology - 1 Aug 2008
Walsh Stephen, Borgese Franck, Gabillat Nicole, Unwin Robert, Guizouarn Helene
Abstract excerpt
Anion exchanger 1 (AE1) is encoded by SLC4A1 and mediates electroneutral anion exchange across cell membranes. It is the most abundant protein in the red cell membrane, but it is also found in the basolateral membrane of renal alpha-intercalated cells, where it is required for normal urinary acidification. Recently, four point mutations in red cell AE1 have been described that convert the anion exchanger to a...
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