PKP1

PKP1

A gene on chromosome 1q32 that encodes plakophilin 1, which is thought to play a role in junctional plaques and contribute to epidermal morphogenesis.

Molecular pathology
Defects in PKP1 cause ectodermal dysplasia-skin fragility syndrome.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
References in periodicals archive ?
Protein and RNA Expressions of TRIM29, DSP, and PKP1 Are Correlated and Their Reductions Are Associated With Poor Prognosis
Examples of the correlation between RNA and protein expression for 3 peptides are shown in Figure 3: DSP, the tripartite motif-containing protein 29 (Trim29), and PKP1. Correlation of protein and RNA expression was not skewed by outliers and is evenly distributed across the range of expression.
Reduced Cell-Cell Adhesion Through Down-Regulated DSP, PKP1, and KRTs Contributes to Poor Prognosis
(36) In the current study, lower levels of PKP1 protein and RNA were associated with DM and diseasespecific survival.
Overall, down-regulation of DSP, PKP1, and several KRTs has been observed to associate with DM and DSD in this study.