Structural highlights
Disease
PKP1_HUMAN Defects in PKP1 are the cause of ectodermal dysplasia-skin fragility syndrome (EDSFS) [MIM:604536; also known as McGrath syndrome. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDSFS is characterized by features of both cutaneous fragility and congenital ectodermal dysplasia affecting abnormalities in other epithelia or tissues. Desmosomes in the skin are small and poorly formed with widening of keratinocyte intercellular spaces and perturbed desmosome/keratin intermediate filament interactions.
Function
PKP1_HUMAN Seems to play a role in junctional plaques. Contributes to epidermal morphogenesis.
Evolutionary Conservation
Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.
