Structural highlights
Disease
PKP2_HUMAN Familial isolated arrhythmogenic ventricular dysplasia, right dominant form;Familial isolated arrhythmogenic ventricular dysplasia, biventricular form;Familial isolated arrhythmogenic ventricular dysplasia, left dominant form. The disease is caused by mutations affecting the gene represented in this entry.
Function
PKP2_HUMAN May play a role in junctional plaques.[1]
References
- ↑ Kirchner F, Schuetz A, Boldt LH, Martens K, Dittmar G, Haverkamp W, Thierfelder L, Heinemann U, Gerull B. Molecular Insights into Arrhythmogenic Right Ventricular Cardiomyopathy Caused by Plakophilin-2 Missense Mutations. Circ Cardiovasc Genet. 2012 Jul 9. PMID:22781308 doi:10.1161/CIRCGENETICS.111.961854
