ArticleThe Biochemical journal2000
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 cells.
Article in The Biochemical journal, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers.
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Who cites it
52 citing papers in PubMed, 171 citations in OpenAlex.
- Expanding the genetic landscape ofFrontiers in genetics · 2026Article
- Urinary sodium wasting and disrupted collecting duct function in mice with distal renal tubular acidosis mutations.Disease models & mechanisms · 2025Article
- Genetic Diagnosis and Treatment of Inherited Renal Tubular Acidosis.Kidney diseases (Basel, Switzerland) · 2023Review
- Mutations and clinical characteristics of dRTA caused byFrontiers in pediatrics · 2023Review
- TheHeliyon · 2023Article
- Impaired trafficking and instability of mutant kidney anion exchanger 1 proteins associated with autosomal recessive distal renal tubular acidosis.BMC medical genomics · 2022Article
- What Decides Your Athletic Career?-Reflection from Our Study of GP.Mur-Associated Sports Talents during the COVID-19 Pandemic Era.International journal of environmental research and public health · 2022Article
- Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease.Kidney international reports · 2021Article
- Distal Renal Tubular Acidosis in an Iranian Patient with Hereditary SpherocytosisIranian biomedical journal · 2021Article
- Heteromeric Solute Carriers: Function, Structure, Pathology and Pharmacology.Advances in experimental medicine and biology · 2021Review
- A case series of distal renal tubular acidosis, Southeast Asian ovalocytosis and metabolic bone disease.BMC nephrology · 2020Article
- Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis.Kidney international · 2020Article
- Red Blood Cell AE1/Band 3 Transports in Dominant Distal Renal Tubular Acidosis Patients.Kidney international reports · 2020Article
- Molecular Simulations of Intact Anion Exchanger 1 Reveal Specific Domain and Lipid Interactions.Biophysical journal · 2019Article
- Distal renal tubular acidosis: genetic causes and management.World journal of pediatrics : WJP · 2019Review
- Nephrolithiasis secondary to inherited defects in the thick ascending loop of henle and connecting tubules.Urolithiasis · 2019Review
- The radial expansion of the Diego blood group system polymorphisms in Asia: mark of co-migration with the Mongol conquests.European journal of human genetics : EJHG · 2019Article
- Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations.Pediatric nephrology (Berlin, Germany) · 2018Article
- Renal Tubular Acidosis: HAdvances in chronic kidney disease · 2018Review
- Primary Autosomal Recessive Distal Renal Tubular Acidosis Caused by a Common Homozygous SLC4A1 Mutation in Two Lao Families.Journal of Korean medical science · 2018Article
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Authors and funding
16 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We describe three mutations of the red-cell anion exchangerband 3 (AE1, SLC4A1) gene associated with distalrenal tubular acidosis (dRTA) in families from Malaysia and Papua NewGuinea: Gly(701)-->Asp (G701D), Ala(858)-->Asp(A858D) and deletion of Val(850) (DeltaV850). The mutationsA858D and DeltaV850 are novel; all three mutations seem to berestricted to South-East Asian populations. South-East Asianovalocytosis (SAO), resulting from the band 3 deletion of residues400-408, occurred in many of the families but did not itselfresult in dRTA. Compound heterozygotes of each of the dRTA mutationswith SAO all had dRTA, evidence of haemolytic anaemia and abnormal red-cell properties. The A858D mutation showed dominant inheritance and therecessive DeltaV850 and G701D mutations showed a pseudo-dominantphenotype when the transport-inactive SAO allele was also present. Red-cell and Xenopus oocyte expression studies showed that theDeltaV850 and A858D mutant proteins have greatly decreased aniontransport when present as compound heterozygotes (DeltaV850/A858D,DeltaV850/SAO or A858D/SAO). Red cells with A858D/SAO had only 3% ofthe SO(4)(2-) efflux of normal cells, thelowest anion transport activity so far reported for human red cells. The results suggest dRTA might arise by a different mechanism for eachmutation. We confirm that the G701D mutant protein has an absoluterequirement for glycophorin A for movement to the cell surface. Wesuggest that the dominant A858D mutant protein is possibly mis-targetedto an inappropriate plasma membrane domain in the renal tubular cell,and that the recessive DeltaV850 mutation might give dRTA because ofits decreased anion transport activity.
Indexed as
Identifiers
10926824PMC1221222W2001143457What OpenQuestion holds
Registered trials
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