Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Human anion exchanger1 mutations and distal renal tubular acidosis.

The Southeast Asian journal of tropical medicine and public health - 1 Sept 2003

Yenchitsomanus Pa-thai

Abstract excerpt

The human anion exchanger 1 (AE1 or SLC4A1) gene encodes anion exchanger 1 (or band 3) protein in erythrocytes and in alpha-intercalated cells of the kidney. Thus, AE1 mutations show pleiotrophic effects resulting in two distinct and seemingly unrelated defects, an erythrocyte abnormality and distal renal tubular acidosis (dRTA). Southeast Asian ovalocytosis (SAO), a well-known red blood cell (RBC) defect, which...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

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

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 17

Share to Elliptocytosis, Hereditary

Share to Genes, Dominant

Share to Genes, Recessive

Share to Mutation

Source

Identifiers

PMID: 15115146

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Human anion exchanger1 mutations and distal renal tubular acidosis.PMID 15115146Read ↗

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

Band 3 mutations, distal renal tubular acidosis, and Southeast Asian ovalocytosis.Semantic proximity Read ↗

Impaired trafficking and instability of mutant kidney anion exchanger 1 proteins associated with autosomal recessive distal renal tubular acidosis.Semantic proximity Read ↗

Autosomal recessive distal renal tubular acidosis associated with Southeast Asian ovalocytosis.Semantic proximity Read ↗

Hematological abnormalities in patients with distal renal tubular acidosis and hemoglobinopathies.Semantic proximity Read ↗

Recessive distal renal tubular acidosis in Sarawak caused by AE1 mutations.Semantic proximity Read ↗

A novel mutation in the anion exchanger 1 gene is associated with familial distal renal tubular acidosis and nephrocalcinosis.Semantic proximity Read ↗

Trafficking defects of the Southeast Asian ovalocytosis deletion mutant of anion exchanger 1 membrane proteins.Semantic proximity Read ↗

Band 3 Edmonton I, a novel mutant of the anion exchanger 1 causing spherocytosis and distal renal tubular acidosis.Semantic proximity Read ↗

Trafficking defect of mutant kidney anion exchanger 1 (kAE1) proteins associated with distal renal tubular acidosis and Southeast Asian ovalocytosis.Semantic proximity Read ↗

Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in Malaysia and Papua New Guinea: loss of up to 95% band 3 transport in red cellsSemantic proximity Read ↗

Southeast Asian AE1 associated renal tubular acidosis: cation leak is a class effect.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.