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 …

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 …

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 …

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...

2024年3月18日 · Mutations in Plakophilin-2 (PKP2), encoding a desmosomal protein, account for approximately 40% of ARVC cases and result in reduced gene expression. Our goal is to …

2021年6月12日 · PKP2 is the most common gene associated with ACM, specifically its right dominant subform, arrhythmogenic right ventricular cardiomyopathy (ARVC). 9, 10 The PKP2 …

pkp2基因致病更为常见,但其基因突变携带者发 生持续性室性心律失常的重点事件(室速、猝死等) 与DSG2无显著差异,且终末期心力衰竭事件(死

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 …

2023年3月28日 · Mertens et al. (1996) isolated cDNAs encoding 2 forms of plakophilin-2 (PKP2), which they named PKP2a and PKP2b, from human colon carcinoma and heart cDNA libraries. …

2024年6月17日 · PKP2 plakophilin 2 Gene ID: 5318, updated on 17-Jun-2024 Gene type: protein coding Also known as: ARVD9. See all available tests in GTR for this gene; Go to complete …