Automated description from the Alliance of Genome Resources (Release 5.3.0)
Enables actin filament binding activity; dystroglycan binding activity; and protein self-association. Involved in several processes, including cell-cell junction organization; cytoskeleton organization; and muscle cell development. Located in brush border and contractile fiber. Is active in several cellular components, including Z disc; hemidesmosome; and sarcolemma. Is expressed in retina and skin. Used to study epidermolysis bullosa simplex Ogna type and epidermolysis bullosa simplex with muscular dystrophy. Human ortholog(s) of this gene implicated in autosomal recessive limb-girdle muscular dystrophy type 2Q; epidermolysis bullosa simplex; epidermolysis bullosa simplex Ogna type; and epidermolysis bullosa simplex with muscular dystrophy. Orthologous to human PLEC (plectin).