KRT14

The protein forms heterotetramer complexes with keratin 5 to create intermediate filaments that comprise the cytoskeleton of epithelial cells, with the nonhelical tail domain promoting filament bundling and mechanical resilience. Mutations cause multiple forms of epidermolysis bullosa simplex (ranging from localized to severe generalized), dermatopathia pigmentosa reticularis, and Naegeli-Franceschetti-Jadassohn syndrome through dominant-negative mechanisms, with inheritance patterns that are typically autosomal dominant but can be autosomal recessive. The pathogenicity results from disrupted keratin filament structure and function, compromising epithelial cell integrity and leading to skin fragility and blistering.