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Article

Autosomal dominant distal renal tubular acidosis is associated in three families with heterozygosity for the R589H mutation in the AE1 (band 3) Cl-/HCO3- exchanger.

The Journal of biological chemistry - 13 Mar 1998

Jarolim P, Shayakul C, Prabakaran D, Jiang L, Stuart-Tilley A, Rubin H L, Simova S, Zavadil J, Herrin J T, Brouillette J, Somers M J, Seemanova E, Brugnara C, Guay-Woodford L M, Alper S L

Abstract excerpt

Distal renal tubular acidosis (dRTA) is characterized by defective urinary acidification by the distal nephron. Cl-/HCO3- exchange mediated by the AE1 anion exchanger in the basolateral membrane of type A intercalated cells is thought to be an essential component of lumenal H+ secretion by collecting duct intercalated cells. We evaluated the AE1 gene as a possible candidate gene for familial dRTA. We found in...

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PMID: 9497368
DOI: 10.1074/jbc.273.11.6380

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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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Autosomal dominant distal renal tubular acidosis is associated in three families with heterozygosity for the R589H mutation in the AE1 (band 3) Cl-/HCO3- exchanger.PMID 9497368Read ↗

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