Plakophilin-2 is a protein that in humans is encoded by the PKP2 gene. [5][6] Plakophilin 2 is expressed in skin and cardiac muscle, where it functions to link cadherins to intermediate …

The PKP2 gene provides instructions for making a protein called plakophilin 2. This protein is found primarily in cells of the myocardium, which is the muscular wall of the heart. Within …

2024年12月25日 · PKP2 (Plakophilin 2) is a Protein Coding gene. Diseases associated with PKP2 include Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 and Arrhythmogenic Right …

In some families, the individual who carries the diagnosis of ARVD/C may be found to have 2 different gene changes in the same gene (i.e. PKP2). This is called compound heterozygosity. …

2017年7月24日 · Plakophilin-2 (PKP2) is a component of the desmosome and known for its role in cell–cell adhesion. Mutations in human PKP2 associate with a life-threatening arrhythmogenic …

Within the characteristic ensemble of desmosomal plaque proteins, the armadillo protein plakophilin-2 (Pkp2) is known as a particularly important regulatory component in the …

2021年6月12日 · We assess the gene-wide and regional association of truncating and missense variants in PKP2 with arrhythmogenic cardiomyopathy (ACM), and arrhythmogenic right …

2017年7月24日 · Plakophilin-2 (PKP2) is a component of the desmosome and known for its role in cell-cell adhesion. Mutations in human PKP2 associate with a life-threatening arrhythmogenic …

PKP2 haploinsufficiency contributes to pathogenesis in arrhythmogenic cardiomyopathy. mutations in PKP2 are associated with a later age of onset of arrhythmogenic right ventricular …

2025年2月9日 · Title: Biallelic PKP2 loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal …