Automated description from the Alliance of Genome Resources (Release 7.2.0)
Enables actin filament binding activity and dystroglycan binding activity. Involved in several processes, including cell-cell junction organization; cytoskeleton organization; and muscle cell development. Located in brush border and contractile muscle fiber. Is active in several cellular components, including Z disc; hemidesmosome; and sarcolemma. Is expressed in lens; 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).
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