Trafficking defect and proteasomal degradation contribute to the phenotype of a novel KCNH2 long QT syndrome mutation.

doi:10.1371/journal.pone.0018273

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Article

Trafficking defect and proteasomal degradation contribute to the phenotype of a novel KCNH2 long QT syndrome mutation.

PloS one - 31 Mar 2011

Mihic Anton, Chauhan Vijay S, Gao Xiaodong, Oudit Gavin Y, Tsushima Robert G

Abstract excerpt

The Kv11.1 (hERG) K+ channel plays a fundamental role in cardiac repolarization. Missense mutations in KCNH2, the gene encoding Kv11.1, cause long QT syndrome (LQTS) and frequently cause channel trafficking-deficiencies. This study characterized the properties of a novel KCNH2 mutation discovered in a LQT2 patient resuscitated from a ventricular fibrillation arrest. Proband genotyping was performed by SSCP and...

Topics

Adult
Blotting, Western
Cell Membrane
ERG1 Potassium Channel
Electrophysiology
Ether-A-Go-Go Potassium Channels
Female
Genotype
HEK293 Cells
Humans
Immunohistochemistry

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Immunoprecipitation

Long QT Syndrome

Microscopy, Confocal

Models, Biological

Mutation

Piperidines

Proteasome Endopeptidase Complex

Source

Open in PubMed Open full text

Identifiers

PMID: 21483829
DOI: 10.1371/journal.pone.0018273
PMCID: PMC3069070

Genes

KCNH2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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