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Article

A previously uncharacterized R881S variant of transporter NBCe1 exhibits intracellular retention and virtually no plasma membrane expression.

American journal of physiology. Renal physiology - 1 Sept 2026

Yamazaki Osamu, Sato Hina, Fujii Wataru, Yakuwa Yumika, Chonan Atsuro, Kozuma Ken, Fujigaki Yoshihide, Shibata Shigeru

Abstract excerpt

Mutations in the Na+/[Formula: see text] cotransporter NBCe1 (SLC4A4) cause proximal renal tubular acidosis (pRTA) and extrarenal symptoms including glaucoma, band keratopathy, migraine, growth disorder, and abnormal tooth enamel. From the NCBI dbSNP database, we recently identified a previously uncharacterized single-nucleotide variant (SNV), R881S, in NBCe1, located in hydrophilic helix 4. R881S NBCe1-A showed...

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Identifiers

PMID: 42454570
DOI: 10.1152/ajprenal.00492.2025

Genes

SLC4A4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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