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 ?
5% muscle 1 DCM TTN Titin 13%-27% MYH7 Myosin, heavy chain 7 [congruent to] 5% LMNA Lamin A/C [congruent to] 5% DSP Desmoplakin [congruent to] 5% TNNT2 Troponin T2, cardiac type 2%-3% TPM1 Tropomyosin 1 (alpha) [congruent to] 2% TNNI3 Troponin I3, cardiac type <1% BAG3 BCL2 associated athanogene 3 N/A (a) RBM20 RNA binding motif protein 20 N/A ARVC PKP2 Plakophilin 2 25%-30% DSP Desmoplakin 9% DSG2 Desmoglein 2 3.
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).