Non-polarized targeting of AE1 causes autosomal dominant distal renal tubular acidosis
MAJ Devonald, AN Smith, JP Poon, G Ihrke, FE Karet - Nature genetics, 2003 - nature.com
MAJ Devonald, AN Smith, JP Poon, G Ihrke, FE Karet
Nature genetics, 2003•nature.comAutosomal 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.
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.
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.
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