Plakophilin-1 | definition of plakophilin-1 by Medical dictionary
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.
Defects in PKP1 cause ectodermal dysplasia-skin fragility syndrome.
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References in periodicals archive
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., 2003).