Article

Clinical Validity of Autosomal Dominant<i>ALPK3</i>Loss-of-function Variants as a Cause of Hypertrophic Cardiomyopathy

2025-03-30

Abstract excerpt

ALPK3 encodes the protein α-kinase 3, an essential cardiac-enriched atypical a-kinase that inserts in the nuclear envelope and the sarcomere M-band of cardiac myocytes, functioning to aid in myosin-mediated force buffering and sarcomere proteostasis. Previously, bi-allelic loss-of-function ALPK3 variants have been reported causative in a severe paediatric phenotype including hypertrophic (HCM) and dilated cardiomy...

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Literature Corpus work: 565f7d4d-1433-5773-b17b-5a1389cd146d
DOI: 10.1101/2025.03.27.25324722

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