Intermediate filaments in disease.
Intermediate filaments are major structural proteins encoded by a large multigene family. Their tissue-specific expression makes them important in studies of development, differentiation and pathology. Most intermediate filaments are keratins; recent discoveries of keratin mutations in a range of genetic skin disorders have clarified their role as providing essential structural support for cells in different physical settings.
McLean
W H
WH
Department of Anatomy and Physiology, University of Dundee, UK.
Lane
E B
EB
D004247:DNA / Q000235:genetics; D004820:Epidermolysis Bullosa / Q000235:genetics*; D005815:Genetic Code; D008040:Genetic Linkage; D006801:Humans; D007382:Intermediate Filaments / Q000502:physiology*; D007633:Keratins / Q000235:genetics; D009154:Mutation; D017434:Protein Structure, Tertiary
D007633:Keratins; D004247:DNA