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a novel homozygous Plakophilin 2-gene mutation has a role in advanced cardiomyopathy
An intronic mutation of c.2577+1G>T in the PKP2 gene causes a nonsyndromic form of Arrhythmogenic Right Ventricular Cardiomyopathy without cutaneous Involvements.
Data show that fetal pMSCs (mesenchymal stromal cells) expressing the highest levels of desmoglein 2 (显示 DSG2 ELISA试剂盒), desmocollin 3 (显示 DSC2 ELISA试剂盒) and plakophilin 2, followed by maternal pMSCs, while bmMSCs expressed the lowest levels.
Results show the involvement of plakophilin 2 protein (PKP2) in two siblings with severe cardiomyopathy with ventricular non compaction.
PKP2 c.419C>T did not associate with heart failure, arrhythmias, or premature death, with ARVC or HCM/DCM, or with effects in vitro, suggesting that this is not a disease-causing variant.
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 (显示 DSC2 ELISA试剂盒)), plakophilin 2 (PKP2), and plakophilin 3 (PKP3 (显示 PKP3 ELISA试剂盒)) are involved in desmosome formation in epithelial cells; DSC2 (显示 DSC2 ELISA试剂盒) participates in desmosome formation in absence of desmoglein 2 (DSG2 (显示 DSG2 ELISA试剂盒)).
PKP2 regulates Wnt (显示 WNT2 ELISA试剂盒) 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 (显示 JUP ELISA试剂盒), and DSG2 (显示 DSG2 ELISA试剂盒) genes showed a deleterious effect on mRNA splicing, indicating these are ARVD (显示 TGFB3 ELISA试剂盒)/C-related pathogenic splice site mutations.
Data indicate that lack of plakophilin-2 (PKP2) can cause arrhythmia in a structurally normal heart.
Results demonstrated that truncated PKP2 provokes arrhythmogenic cardiomyopathy in the absence of fibro-fatty replacement in the mouse.
PKP2 deficiency leads to suppression of the E2F1 (显示 E2F1 ELISA试剂盒) pathway and hypermethylation of CPG sites at miR (显示 MLXIP ELISA试剂盒)-184 promoter.
Plakophilin-2 loss promotes TGF-beta1 (显示 TGFB1 ELISA试剂盒)/p38 MAPK (显示 MAPK14 ELISA试剂盒)-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 (显示 GJA1 ELISA试剂盒), 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.