Genetic skin diseases caused by mutations in keratin intermediate filaments.
Keratin intermediate filaments are the major differentiation products of epithelial cells such as the epidermis. The filaments are highly dynamic entities involved in the maintenance of the structural integrity of both the individual cells and the entire tissue. Recent biochemical studies suggest that the keratin proteins overlap each other in several key locations when packed together in filaments. Interestingly, mutations that introduce inappropriate amino acid substitutions in at least some of these overlap regions cause defective keratin filaments that result in at least three classes of autosomal dominant skin disease.
Steinert
P M
PM
Skin Biology Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892.
Bale
S J
SJ
D000595:Amino Acid Sequence; D000818:Animals; D006801:Humans; D007382:Intermediate Filaments / Q000378:metabolism*; D007633:Keratins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D012871:Skin Diseases / Q000235:genetics*
D007633:Keratins