title: Plectin-related skin diseases.
abstract: Plectin has been characterized as a linker protein that is expressed in many cell types and is distinctive in various isoforms in the N-terminus and around the rod domain due to complicated alternative splicing of PLEC, the gene encoding plectin. Plectin deficiency causes autosomal recessive epidermolysis bullosa simplex (EBS) with involvement of the skin and other organs, such as muscle and gastrointestinal tract, depending on the expression pattern of the defective protein. In addition, a point mutation in the rod domain of plectin leads to autosomal dominant EBS, called as EBS-Ogna. Plectin can be targeted by circulating autoantibodies in subepidermal autoimmune blistering diseases. This review summarizes plectin-related skin diseases, from congenital to autoimmune disorders.
authors.affiliation: Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, Sapporo 060-8638, Japan. Electronic address: natsuga@med.hokudai.ac.jp.
authors.forename: Ken
authors.initials: K
authors.lastname: Natsuga
mesh_terms: D001323:Autoantibodies / Q000097:blood; D001327:Autoimmune Diseases / Q000235:genetics* / Q000276:immunology; D016110:Epidermolysis Bullosa Simplex / Q000150:complications / Q000235:genetics*; D017219:Gastric Outlet Obstruction / Q000150:complications / Q000235:genetics; D006801:Humans; D009136:Muscular Dystrophies / Q000150:complications / Q000235:genetics; D051190:Plectin / Q000172:deficiency / Q000235:genetics* / Q000276:immunology*; D017354:Point Mutation; D011708:Pylorus / Q000002:abnormalities; D012872:Skin Diseases, Vesiculobullous / Q000235:genetics / Q000276:immunology
chemical_list: D001323:Autoantibodies; D051190:Plectin
keywords: Epidermal basement membrane; Hemidesmosome; Muscular dystrophy; Pyloric atresia