PKP1

(redirected from plakophilin-1)

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.
References in periodicals archive ?
Decreased plakophilin-1 expression promotes increased motility in head and neck squamous cell carcinoma cells.
The query [Plakophilins[MeSH] AND case reports[PT]] generated 2 distinct main findings: 1 concerned plakophilin-1 mutations that cause ectodermal dysplasia skin fragility syndrome, and 1 reported novel plakophilin-2 mutations.
Whereas the cadherins in most AJs are linked to the actin cytoskeleton through [alpha]-and [beta]-catenin, desmosomal cadherins recruit the armadillo proteins plakoglobin and plakophilin-1, which are vertebrate-specific gene duplications related to [beta]-catenin and are linked to the intermediate filament cytoskeleton either directly or via the linker protein desmoplakin (Schneider et al.