Keratins and skin disorders.
The association of keratin mutations with genetic skin fragility disorders is now one of the best-established examples of cytoskeleton disorders. It has served as a paradigm for many other diseases and has been highly informative for the study of intermediate filaments and their associated components, in helping to understand the functions of this large family of structural proteins. The keratin diseases have shown unequivocally that, at least in the case of the epidermal keratins, a major function of intermediate filaments is to provide physical resilience for epithelial cells. This review article reflects on the variety of phenotypes arising from mutations in keratins and the reasons for this variation.
Lane
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EB
Cancer Research UK Cell Structure Research Group, Division of Cell and Developmental Biology, University of Dundee School of Life Sciences, MSI/WTB Complex, Dow Street, Dundee DD1 5EH, UK. e.b.lane@dundee.ac.uk
McLean
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WH
D003317:Corneal Dystrophies, Hereditary / Q000235:genetics; D003599:Cytoskeleton / Q000737:chemistry; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics; D006197:Hair; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000235:genetics; D007057:Ichthyosis / Q000235:genetics; D015603:Keratinocytes / Q000737:chemistry; D007633:Keratins / Q000235:genetics* / Q000378:metabolism; D007645:Keratoderma, Palmoplantar / Q000235:genetics; D009154:Mutation; D009506:Nevus / Q000235:genetics; D010641:Phenotype; D012871:Skin Diseases / Q000235:genetics* / Q000378:metabolism
D007633:Keratins