Plakophilin-2 (PKP2) ELISA Kit for Human

This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This gene product may regulate the signaling activity of beta-catenin. Two alternately spliced transcripts encoding two protein isoforms have been identified. A processed pseudogene with high similarity to this locus has been mapped to chromosome 12p13. [provided by RefSeq, Jul 2008]

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: 12p11.21

Cellular Component: adherens junction; cell junction; cornified envelope; desmosome; integral component of membrane; intercalated disc; intercellular junction; intermediate filament; nucleoplasm; nucleus; plasma membrane

Molecular Function: alpha-catenin binding; cadherin binding; cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication; intermediate filament binding; ion channel binding; protein binding; protein complex scaffold activity; protein kinase C binding; sodium channel regulator activity

Biological Process: bundle of His cell-Purkinje myocyte adhesion involved in cell communication; cardiac muscle cell action potential; cardiac muscle cell action potential involved in contraction; cell communication by electrical coupling involved in cardiac conduction; cell-cell signaling involved in cardiac conduction; cornification; gap junction assembly; heart development; intermediate filament bundle assembly; keratinization; lipid homeostasis; maintenance of animal organ identity; negative regulation of cell migration; negative regulation of cell proliferation; positive regulation of sodium ion transport; protein localization to plasma membrane; regulation of bicellular tight junction assembly; regulation of heart rate by cardiac conduction; regulation of molecular function; regulation of ventricular cardiac muscle cell action potential; ventricular cardiac muscle cell action potential; ventricular cardiac muscle tissue morphogenesis

Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9