background:
Plakophilins 1, 2, 3 and 4 (PKP1-4) influence development and participate in linking cadherins to cytoskeletal intermediate filaments. Plakophilins 1-4 contain arm-repeat (armadillo) domains, and localize to nuclei and cell desmosomes (cell-cell junctions found in suprabasal layers of stratifying epithelia that undergo mechanical stress). Plakophilin-1 mediates increases in desmosomal protein content, desmosome assembly, and regulation of cell migration. Plakophilin-2 is important for desmosome assembly and is an essential morphogenic factor and architectural component of the heart. Plakophilin-3 plays a role in both desmosome-dependent adhesion and signaling pathways. Plakophilin-4 is a component of desmosomal adhesion plaques that regulates junctional plaque organization and cadherin function.
Function:
May play a role in junctional plaques.
Subunit:
Interacts with DSC2.
Subcellular Location:
Nucleus. Cell junction, desmosome.Note=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.
Post-translational modifications:
Phosphorylated upon DNA damage, probably by ATM or ATR.
DISEASE:
Defects in PKP2 are the cause of familial arrhythmogenic right ventricular dysplasia type 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.
Similarity:
Belongs to the beta-catenin family.
Contains 8 ARM repeats.
Database links:
Entrez Gene: 537784 Cow
Entrez Gene: 486613 Dog
Entrez Gene: 101150898 Gorilla
Entrez Gene: 101830795 Hamster
Entrez Gene: 100070065 Horse
Entrez Gene: 5318 Human
Entrez Gene: 67451 Mouse
Entrez Gene: 100347738 Rabbit
Entrez Gene: 287925 Rat
Omim: 602861 Human
SwissProt: Q99959 Human
Unigene: 164384 Human
Unigene: 2252 Mouse
Unigene: 27944 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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