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Article

Dominant-negative effect of Southeast Asian ovalocytosis anion exchanger 1 in compound heterozygous distal renal tubular acidosis.

The Biochemical journal - 1 Mar 2008

Kittanakom Saranya, Cordat Emmanuelle, Reithmeier Reinhart A F

Abstract excerpt

The human chloride/bicarbonate AE1 (anion exchanger) is a dimeric glycoprotein expressed in the red blood cell membrane,and expressed as an N-terminal (Delta1-65) truncated form, kAE1(kidney AE1), in the basolateral membrane of alpha-intercalated cells in the distal nephron. Mutations in AE1 can cause SAO (Southeast Asian ovalocytosis) or dRTA (distal renal tubular acidosis), an inherited kidney disease resulting...

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Share to Acidosis, Renal Tubular
Share to Anion Exchange Protein 1, Erythrocyte

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Asia, Southeastern

Share to Bicarbonates

Share to Chlorides

Share to Elliptocytosis, Hereditary

Share to Genetic Carrier Screening

Share to Molecular Conformation

Source

Identifiers

PMID: 17941824
DOI: 10.1042/BJ20070615

Provenance

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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