Non-polarized targeting of AE1 causes autosomal dominant distal renal tubular acidosis
- 21 January 2003
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 33 (2) , 125-127
- https://doi.org/10.1038/ng1082
Abstract
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 α-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.Keywords
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