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

ABSTRACT: 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 cysteine at amino acid position 799 (p.R799C), is common in Asian populations. To improve our understanding of the population distribution and potential clinical significance of the NHE3-799C variant, we investigated the frequency of this polymorphism in different ethnic groups using bioinformatics analyses and in a cohort of Japanese patients with card

SUBMITTER: Yin J 

PROVIDER: S-EPMC5582881 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature