PKP2 Antibody – Rabbit Polyclonal

plakophilin 2: 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.

Protein type: Cell adhesion; Membrane protein, integral; Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 12p11

Cellular Component: nucleoplasm; desmosome; adherens junction; integral to membrane; plasma membrane; intermediate filament; intercellular junction; cell junction; nucleus

Molecular Function: protein binding; sodium channel regulator activity; protein kinase C binding; intermediate filament binding; protein complex scaffold

Biological Process: negative regulation of cell proliferation; cell-cell adhesion; gap junction assembly; heart development; lipid homeostasis; ventricular cardiac muscle morphogenesis; intermediate filament bundle assembly; negative regulation of cell migration; maintenance of organ identity

Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9