PKP2

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.
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References in periodicals archive ?
Most variants associated with ARVC occur in genes encoding desmosomal proteins [plakophilin 2 (PKP2), desmocollin 2 (DSC2), desmoglein 2 (DSG2), desmoplakin (DSP), junction plakoglobin (JUP)] (9).
Mutations in PKP2 encoding plakophilin-2 are the most frequent.
In the other two studies, iPSC-derived cardiomyocytes of patients carrying two different mutations in PKP2 were generated.
PKP2 is a fun film about relationships from a male's perspective," said Ranjan.
These loci harbored two gap junction-related genes, plakophilin 2 (PKP2) and cortactin-binding protein 2 Nterminal like (CTTNBP2NL), and two neuroendocrine-related genes, SET domain containing 6 (SETD6) and calcium channel, voltage-dependent, beta 2 subunit (CACNB2).
Meanwhile ARVD shows different type of family genetic transmission in which the plakophilin (PKP2) mutation has been found as a major cause of ARVC/D with prevalence of mutations among unrelated index cases as high as 43% (3, 4).