Nature Genetics 33, 125 - 127 (2003)
Published online: 21 January 2003; | doi:10.1038/ng1082
Non-polarized targeting of AE1 causes autosomal dominant distal renal tubular acidosisMark A.J. Devonald1, 2, Annabel N. Smith1, Jenny P. Poon1, Gudrun Ihrke3, 4
& Fiona E. Karet1, 2, 41
Department of Medical Genetics, University of Cambridge, Cambridge Institute for Medical Research, Addenbrooke's Hospital Box 139, Cambridge CB2 2XY, UK. 2
Division of Nephrology, University of Cambridge, Cambridge Institute for Medical Research, Addenbrooke's Hospital Box 139, Cambridge CB2 2XY, UK. 3
Department of Clinical Biochemistry, University of Cambridge, Cambridge Institute for Medical Research, Addenbrooke's Hospital Box 139, Cambridge CB2 2XY, UK. 4
These authors contributed equally to this work.
Correspondence should be addressed to Fiona E. Karet fek1000@cam.ac.uk Autosomal dominant distal renal tubular acidosis (ddRTA) is caused by mutations in SLC4A1, which encodes the polytopic chloride–bicarbonate exchanger AE1 that is normally expressed at the basolateral surface of  -intercalated cells in the distal nephron. Here we report that, in contrast with many disorders in which mutant membrane proteins are retained intracellularly and degraded, ddRTA can result from aberrant targeting of AE1 to the apical surface.
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