Article

Biallelic variants in<i>POPDC2</i>cause a novel autosomal recessive syndrome presenting with cardiac conduction defects and variable hypertrophic cardiomyopathy

2024-07-05

Abstract excerpt

<h4>ABSTRACT</h4> POPDC2 encodes for the Popeye domain-containing protein 2 which has an important role in cardiac pacemaking and conduction, due in part to its cAMP-dependent binding and regulation of TREK-1 potassium channels. Loss of Popdc2 in mice results in sinus pauses and bradycardia and morpholino knockdown of popdc2 in zebrafish results in atrioventricular (AV) block. We identified bi-allelic variants in...

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Literature Corpus work: 3bdcc55e-f276-5f5f-9046-80fd2cee037d
DOI: 10.1101/2024.07.04.24309755

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