(Redirected from PKP2)
Important Issues in Man
Relevant Clinical Literature
Wikipedia on Plakophilin (Less technical, ? quality control)
- Plakophilin-1 (Band-6 protein, B6P) coded by PKP1 gene at 1q32
- Two isoforms, the nuclear one is involved in alternative splicing.
- Mutations cause ectodermal dysplasia/skin fragility syndrome (EDSFS, McGrath syndrome)
- Plakophilin-2 coded by PKP2 gene at 12p11
- May have a nuclear role.
- Mutations cause familial arrhythmogenic right ventricular dysplasia type 9 (ARVD9, arrhythmogenic right ventricular cardiomyopathy 9, RVC9).
- Plakophilin-3 coded by PKP3 gene at 11p15
- Plakophilin-4 (p0071) coded by PKP4 gene at 2q23-q31
- Two isoforms