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Article

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

Nature genetics - 1 Feb 2003

Devonald Mark A J, Smith Annabel N, Poon Jenny P, Ihrke Gudrun, Karet Fiona E

Abstract excerpt

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...

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Identifiers

PMID: 12539048
DOI: 10.1038/ng1082

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Non-polarized targeting of AE1 causes autosomal dominant distal renal tubular acidosis.PMID 12539048Read ↗

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Defective kidney anion-exchanger 1 (AE1, Band 3) trafficking in dominant distal renal tubular acidosis (dRTA).Semantic proximity Read ↗

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