Summary
Performance
Immunogen
Application
Background
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],disease:Defects in PKP2 are the cause of familial arrhythmogenic right ventricular dysplasia 9 (ARVD9) [MIM:609040]; 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.,function:May play a role in junctional plaques.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,similarity:Belongs to the beta-catenin family.,similarity:Contains 8 ARM repeats.,subcellular location:Nuclear and associated with desmosomes.,tissue specificity:Widely expressed. Found at desmosomal plaques in simple and stratified epithelia and in non-epithelial tissues such as myocardium and lymph node follicles. In most stratified epithelia found in the desmosomes of the basal cell layer and seems to be absent from suprabasal strata.,
Research Area
Arrhythmogenic right ventricular cardiomyopathy (ARVC);
