A common NHE3 single-nucleotide polymorphism has normal function and sensitivity to regulatory ligands.

doi:10.1152/ajpgi.00044.2017

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Article

A common NHE3 single-nucleotide polymorphism has normal function and sensitivity to regulatory ligands.

American journal of physiology. Gastrointestinal and liver physiology - 1 Aug 2017

Yin Jianyi, Tse Chung-Ming, Cha Boyoung, Sarker Rafiquel, Zhu Xinjun C, Walentinsson Anna, Greasley Peter J, Donowitz Mark

Abstract excerpt

Na+/H+ exchanger NHE3 mediates the majority of intestinal and renal electroneutral sodium absorption. Dysfunction of NHE3 is associated with a variety of diarrheal diseases. We previously reported that the NHE3 gene (SLC9A3) has more than 400 single-nucleotide polymorphisms (SNPs) but few nonsynonymous polymorphisms. Among the latter, one polymorphism (rs2247114-G>A), which causes a substitution from arginine to...

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PMID: 28495802
DOI: 10.1152/ajpgi.00044.2017
PMCID: PMC5582881

Genes

NHERF2

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