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Article

The HCN4 channel mutation D553N associated with bradycardia has a C-linker mediated gating defect.

Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology - 1 Jan 2012

Netter Michael F, Zuzarte Marylou, Schlichthörl Günter, Klöcker Nikolaj, Decher Niels

Abstract excerpt

BACKGROUND/AIMS: The D553N mutation located in the C-linker of the cardiac pacemaker channel HCN4 is thought to cause sino-atrial dysfunction via a pronounced dominant-negative trafficking defect. Since HCN4 mutations usually have a minor defect in channel gating, it was our aim to further characterize the disease causing mechanism of D553N. METHODS: Fluorescence microscopy, FACS, TEVC and patch-clamp recordings...

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Source

Identifiers

PMID: 23075627
DOI: 10.1159/000343314

Genes

HCN4

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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The HCN4 channel mutation D553N associated with bradycardia has a C-linker mediated gating defect.PMID 23075627Read ↗

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