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PKP2 encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Additionally we are shipping Plakophilin 2 Antibodies (71) and and many more products for this protein.
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Extreme variability in clinical penetrance for a splice-site PKP2 mutation was found in a Bangladeshi family. Some family members were affected by arrhythmogenic right ventricular cardiomyopathy, and some are asymptomatic.
Data suggest juxtamembrane regions/domains of desmocollin-2 (DSC2 (show DSC2 ELISA Kits)), plakophilin 2 (PKP2), and plakophilin 3 (PKP3 (show PKP3 ELISA Kits)) are involved in desmosome formation in epithelial cells; DSC2 (show DSC2 ELISA Kits) participates in desmosome formation in absence of desmoglein 2 (DSG2 (show DSG2 ELISA Kits)).
PKP2 regulates Wnt (show WNT2 ELISA Kits) activity during adipogenic and cardiomyogenic differentiation in arrhythmogenic right ventricular cardiomyopathy.
A heterozygous pathogenic variant in the plakophilin-2 (c.2392A>G, p.T798A) gene was found in an arrhythmogenic LV cardiomyopathy patient and his deceased mother who had had arrhythmogenic cardiomyopathy affecting both ventricles.
Six variants of uncertain clinical significance in the PKP2, JUP (show JUP ELISA Kits), and DSG2 (show DSG2 ELISA Kits) genes showed a deleterious effect on mRNA splicing, indicating these are ARVD (show TGFB3 ELISA Kits)/C-related pathogenic splice site mutations.
Exercise test is valuable for the diagnosis of ARVC in patients with PKP2 gene mutation.
Case Report: PKP2/DSP (show DSP ELISA Kits) mutations in patient with Brugada syndrome and ventricular tachycardia.
The introduction of the PKP2 R735X mutation into mice resulted in an exercise-dependent arrhythmogenic right ventricular cardiomyopathy.
PKP2 haploinsufficiency contributes to pathogenesis in arrhythmogenic cardiomyopathy.
mutations in PKP2 are associated with a later age of onset of arrhythmogenic right ventricular cardiomyopathy
Plakophilin-2 loss promotes TGF-beta1 (show TGFB1 ELISA Kits)/p38 MAPK (show MAPK14 ELISA Kits)-dependent fibrotic gene expression in cardiomyocytes.
Missense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotype.
PKP2 haploinsufficiency leads to I(Na) deficit in murine hearts which may contribute to generation and/or maintenance of arrhythmias.
plakophilin 2 is important for the assembly of junctional proteins and represents an essential morphogenic factor and architectural component of the heart
By providing an extra link between the cadherin-catenin complex and intermediate filaments, the binding of alphaT-catenin to plakophilin-2 is proposed to be a means of modulating and strengthening cell-cell adhesion between cardiac muscle cells.
PKP2 increased connexin 43 (show GJA1 ELISA Kits), a gap junction protein, while its knockdown inhibited embryo implantation in mice.
This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This gene product may regulate the signaling activity of beta-catenin. Two alternately spliced transcripts encoding two protein isoforms have been identified. A processed pseudogene with high similarity to this locus has been mapped to chromosome 12p13.