May play a role in junctional plaques. Defects in PKP2 are the cause of familial arrhythmogenic right ventricular dysplasia type 9 (ARVD9); also known as arrhythmogenic right ventricular cardiomyopathy 9 (ARVC9). ARVD is an autosomal dominant disease characterized by partial degeneration of the myocardium of the right ventricle, electrical instability, and sudden death. It is clinically defined by electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular free wall. Belongs to the beta-catenin family. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Cell adhesion; Motility/polarity/chemotaxis; Membrane protein, integral
Cellular Component: desmosome; adherens junction; plasma membrane; integral to membrane; intermediate filament; intercellular junction; nucleus
Molecular Function: protein binding; protein kinase C binding; sodium channel regulator activity; molecular_function; intermediate filament binding; protein complex scaffold
Biological Process: negative regulation of cell proliferation; cell-cell adhesion; gap junction assembly; heart development; ventricular cardiac muscle morphogenesis; lipid homeostasis; intermediate filament bundle assembly; maintenance of organ identity; negative regulation of cell migration
SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.