Pathology
Proteins that interact with intermediate filaments in desmosome and hemidesmosome cell-junction complexes are associated with several diseases.
The loss of plectin, a cytoskeletal linker protein with critical functions in keratin organization in skin and desmin organization in muscle sarcomeres, causes the recessive disorder epidermolysis bullosa simplex with muscular dystrophy.
Disturbances of other desmosomal proteins have been linked to ectodermal dysplasia, hair abnormalities, and cardiomyopathy:
- plakophilin
- plakoglobin
- desmoplakin
- desmogleins
- corneodesmosin