Non-polarized targeting of AE1 causes autosomal dominant distal renal tubular acidosis

被引：113

作者：

Devonald, MAJ

Smith, AN

Poon, JR

Ihrke, G

Karet, FE

机构：

[1] Univ Cambridge, Cambridge Inst Med Res, Dept Med Genet, Addenbrookes Hosp, Cambridge CB2 2XY, England

[2] Univ Cambridge, Cambridge Inst Med Res, Div Nephrol, Addenbrookes Hosp, Cambridge CB2 2XY, England

[3] Univ Cambridge, Cambridge Inst Med Res, Dept Clin Biochem, Addenbrookes Hosp, Cambridge CB2 2XY, England

来源：

NATURE GENETICS | 2003年 / 33卷 / 02期

基金：

英国惠康基金;

关键词：

D O I：

10.1038/ng1082

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 alpha-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.

引用

页码：125 / 127

页数：3

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