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Article

A novel, de novo mutation in the PRKAG2 gene: infantile-onset phenotype and the signaling pathway involved.

American journal of physiology. Heart and circulatory physiology - 1 Aug 2017

Xu Yanchun, Gray A, Hardie D Grahame, Uzun Alper, Shaw Sunil, Padbury James, Phornphutkul Chanika, Tseng Yi-Tang

Abstract excerpt

PRKAG2 encodes the γ2-subunit isoform of 5'-AMP-activated protein kinase (AMPK), a heterotrimeric enzyme with major roles in the regulation of energy metabolism in response to cellular stress. Mutations in PRKAG2 have been implicated in a unique hypertrophic cardiomyopathy (HCM) characterized by cardiac glycogen overload, ventricular preexcitation, and hypertrophy. We identified a novel, de novo PRKAG2 mutation...

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Share to Adenosine Monophosphate
Share to AMP-Activated Protein Kinases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cardiomyopathy, Hypertrophic

Share to Myocytes, Cardiac

Share to Phosphoproteins

Share to Ribosomal Protein S6 Kinases, 70-kDa

Share to Sirolimus

Share to TOR Serine-Threonine Kinases

Source

Open in PubMed Open full text

Identifiers

PMID: 28550180
DOI: 10.1152/ajpheart.00813.2016
PMCID: PMC5582920

Genes

PRKAG2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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