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Article

Entry to "formula tunnel" revealed by SLC4A4 human mutation and structural model.

The Journal of biological chemistry - 27 Jun 2008

Chang Min-Hwang, DiPiero Jennifer, Sönnichsen Frank D, Romero Michael F

Abstract excerpt

Glaucoma, cataracts, and proximal renal tubular acidosis are diseases caused by point mutations in the human electrogenic Na(+) bicarbonate cotransporter (NBCe1/SLC4A4) (1, 2). One such mutation, R298S, is located in the cytoplasmic N-terminal domain of NBCe1 and has only moderate (75%) function. As SLC transporters have high similarity in their membrane and N-terminal primary sequences, we homology-modeled NBCe1...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 18441326
DOI: 10.1074/jbc.M709819200
PMCID: PMC2440602

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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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