Mutations in the PLEC gene cause basal epidermolysis bullosa simplex (EBS) in 8% of cases (Bolling et al., 2014). PLEC encodes the ubiquitously present cytolinker protein plectin, which plays an important role in the hemidesmosome by connecting keratin filaments to the underlying integrin α6β4 subunit (Andra et al., 2003; Koster et al., 2003). Plectin deficiency in skin results in intraepidermal skin cleavage in basal keratinocytes (McLean et al., 1996). In humans, eight distinct plectin isoforms have been identified arising from tissue-specific translation.
- EPIDERMOLYSIS-BULLOSA SIMPLEX