Plakophilin 2 (PKP2) ELISA Kit for Goose

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

Chromosomal Location of Human Ortholog: 12p11

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

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; ventricular cardiac muscle morphogenesis; lipid homeostasis; intermediate filament bundle assembly; maintenance of organ identity; negative regulation of cell migration

Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9