In humans,plectin is encoded by the plectin gene(PLEC, PLEC1), which is located on chromosome 8 (8q24.3). Mutations in PLEC cause several rare diseases grouped under the term plectinopathies . The most common disease is autosomal recessive inherited epidermolysis bullosa simplex with muscular dystrophy (EBS-MD), which is characterized by blistering of the skin and progressive muscle weakness (Winter L et al. 2016).
S.u. plectin
S.u. PLEC gene