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Article

Novel KCNJ10 Gene Variations Compromise Function of Inwardly Rectifying Potassium Channel 4.1.

The Journal of biological chemistry - 1 Apr 2016

Méndez-González Miguel P, Kucheryavykh Yuriy V, Zayas-Santiago Astrid, Vélez-Carrasco Wanda, Maldonado-Martínez Gerónimo, Cubano Luis A, Nichols Colin G, Skatchkov Serguei N, Eaton Misty J

Abstract excerpt

TheKCNJ10gene encoding Kir4.1 contains numerous SNPs whose molecular effects remain unknown. We investigated the functional consequences of uncharacterized SNPs (Q212R, L166Q, and G83V) on homomeric (Kir4.1) and heteromeric (Kir4.1-Kir5.1) channel function. We compared these with previously characterized EAST/SeSAME mutants (G77R and A167V) in kidney-derived tsA201 cells and in glial cell-derived C6 glioma cells....

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Share to Amino Acid Substitution
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Single Nucleotide

Share to Potassium Channels, Inwardly Rectifying

Source

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Identifiers

PMID: 26867573
DOI: 10.1074/jbc.M115.679910
PMCID: PMC4817196

Genes

KCNJ10

Provenance

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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