PKP2

(redirected from plakophilin-2)

PKP2

A gene on chromosome 12p11 that encodes plakophilin 2, which is thought to play a role in junctional plaques and contribute to epidermal morphogenesis.

Molecular pathology
Defects in PKP2 cause arrhythmogenic right ventricular dysplasia type 9.
References in periodicals archive ?
The query [Plakophilins[MeSH] AND case reports[PT]] generated 2 distinct main findings: 1 concerned plakophilin-1 mutations that cause ectodermal dysplasia skin fragility syndrome, and 1 reported novel plakophilin-2 mutations.
Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2.
Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Plakophilin-2 (PKP-2): Highest number of mutations have been reported in PKP-2 gene causing ARVD/C9 thus suggesting the plakophillin may be a frequent cause of the disease.
The clinical manifestations of the probands harbouring desmoplakin gene mutations are similar to patients with other ARVCs except that probands with DSP mutations are characterized by a high occurrence of sudden death even in the concealed phase (49), while individuals harbouring plakophilin-2 genes mutations express the disease earlier in life, as determined by age at first clinical manifestation and age at first arrhythmias (65).
Mutations in the plakophilin-2 genes cause the disease affecting predominantly the RV, while desmocollin-2 gene mutations may be more frequently associated with left ventricular phenotype without significant right ventricular involvement (55).
Probands with TGF/3-3 gene mutation presented only non sustained ventricular tachycardia/ arrhythmias while probands carrying the mutation in the either desmoplakin or plakophilin-2 genes presented with all the four types--sustained ventricular tachycardia, non sustained VT (NVST), polymorphic ventricular complexes (PVCs) and ventricular fibrillation.
Connexin 43 and plakophilin-2 as a protein complex that regulates blood-testis barrier dynamics," Proceedings of the National Academy of Sciences of the United States of America 106(25): 10213-10218.