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Article

Functional analysis of nonsynonymous single nucleotide polymorphisms in human SLC26A9.

Human mutation - 1 Aug 2012

Chen An-Ping, Chang Min-Hwang, Romero Michael F

Abstract excerpt

Slc26 anion transporters play crucial roles in transepithelial Cl(-) absorption and HCO(3)(-) secretion; Slc26 protein mutations lead to several diseases. Slc26a9 functions as a Cl(-) channel and electrogenic Cl(-)--HCO(3)(-) exchanger, and can interact with cystic fibrosis transmembrane conductance regulator. Slc26a9(-/-) mice have reduced gastric acid secretion, yet no human disease is currently associated with...

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Identifiers

PMID: 22544634
DOI: 10.1002/humu.22107
PMCID: PMC3399991

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