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Article

A novel human mutation in the SLC9A1 gene results in abolition of Na+/H+ exchanger activity.

PloS one - 1 Jan 2015

Li Xiuju, Fliegel Larry

Abstract excerpt

The SLC9A1 gene, the Na+/H+ exchanger isoform 1 is the principal plasma membrane Na+/H+ exchanger of mammalian cells and functions by exchanging one intracellular proton for one extracellular sodium. The human protein is 815 amino acids in length. Five hundred N-terminal amino acids make up the transport domain of the protein and are believed to form 12 transmembrane segments. Recently, a genetic mutation of the...

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PMID: 25760855
DOI: 10.1371/journal.pone.0119453
PMCID: PMC4356549

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

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