Automated description from the Alliance of Genome Resources (Release 4.1.0)
Enables actin filament binding activity; dystroglycan binding activity; and protein self-association. Involved in several processes, including cytoskeleton organization; muscle cell development; and skin development. Located in several cellular components, including brush border; hemidesmosome; and mitochondrial outer membrane. Is active in several cellular components, including Z disc; myelin sheath; 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).