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Article

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

BMC medical genomics - 31 Oct 2022

Deejai Nipaporn, Sawasdee Nunghathai, Nettuwakul Choochai, Wanachiwanawin Wanchai, Sritippayawan Suchai, Yenchitsomanus Pa-Thai, Rungroj Nanyawan

Abstract excerpt

BACKGROUND: Mutations in solute carrier family 4 member 1 (SLC4A1) encoding anion exchanger 1 (AE1) are the most common cause of autosomal recessive distal renal tubular acidosis (AR dRTA) in Southeast Asians. To explain the molecular mechanism of this disease with hematological abnormalities in an affected family, we conducted a genetic analysis of SLC4A1 and studied wild-type and mutant AE1 proteins expressed...

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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

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Source

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Identifiers

PMID: 36320073
DOI: 10.1186/s12920-022-01381-y
PMCID: PMC9623938

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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