Article
Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations.
Experimental dermatology - 1 Apr 2005
Pfendner E, Rouan F, Uitto J
Abstract excerpt
Plectin, a large multidomain adhesive protein with versatile binding functions, is expressed in a number of tissues and cell types. In the skin, plectin is a critical component of hemidesmosomes, interacting with keratin intermediate filaments and beta4 integrin. Mutations in the plectin gene (PLEC1) result in fragility of skin, demonstrating blister formation at the level of hemidesmosomes. These blistering...
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