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Article

The human CASQ2 mutation K206N is associated with hyperglycosylation and altered cellular calcium handling.

Journal of molecular and cellular cardiology - 1 Jul 2010

Kirchhefer Uwe, Wehrmeister Diana, Postma Alex V, Pohlentz Gottfried, Mormann Michael, Kucerova Dana, Müller Frank U, Schmitz Wilhelm, Schulze-Bahr Eric, Wilde Arthur A, Neumann Joachim

Abstract excerpt

Mutations in the human cardiac calsequestrin gene (CASQ2) are linked to catecholaminergic polymorphic ventricular tachycardia (CPVT-2). This inherited disorder is characterized by life-threatening arrhythmias induced by physical and emotional stress in young patients. Here we identified a novel heterozygous missense mutation (K206N) in the CASQ2 gene in a symptomatic family in which one member died of cardiac...

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Share to Arrhythmias, Cardiac
Share to Calcium, Dietary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Calsequestrin

Share to Muscle Cells

Share to Ryanodine Receptor Calcium Release Channel

Share to Sarcoplasmic Reticulum

Share to Tachycardia, Ventricular

Source

Identifiers

PMID: 20302875
DOI: 10.1016/j.yjmcc.2010.03.006

Genes

CASQ2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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The human CASQ2 mutation K206N is associated with hyperglycosylation and altered cellular calcium handling.PMID 20302875Read ↗

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