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.
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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).
Stories and challenges of genome wide association studies in livestock--a review
Disease Gene Protein Mutation Arrhythmogenic right PKP2 Plakophilin 2 c.2484C>T ventricular dysplasia PKP2 Plakophilin 2 c.2013delC (ARVD) Arrhythmogenic right PKP2 Plakophilin 2 c.972InsT/N ventricular dysplasia (ARVD) Arrhythmogenic right PKP2 Plakophilin 2 c.1841T>C ventricular dysplasia (p.L614P) (ARVD) Dilated cardiomyopathy DES Desmin c.940C>T (p.A285V) Barth syndrome TAZ1 Tafazzin c.590G>T, (dilated cardiomyopathy) p.
Human induced pluripotent stem cell-derived cardiomyocytes afford new opportunities in inherited cardiovascular disease modeling

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