Keratins and their associated skin disorders.
Keratins are the largest group of intermediate filament proteins that are expressed in the cytoplasm of epithelial cells. They form a cytoskeletal scaffold that maintains cell and tissue integrity and provides vital mechanical support to epithelia. Mutations in 19 different keratin genes have so far been identified as the cause of at least 15 different genetic diseases. Identification of the molecular basis of the keratin disorders has contributed to definite diagnoses and has facilitated genetic counselling. Better understanding of the structure, function and regulatory mechanisms of keratins will be the basis for the development of novel therapeutic approaches to overcome the current treatment limitations.
Arin
Meral J
MJ
Department of Dermatology, University of Cologne, Kerpener Strasse 62, 50924 Cologne. meral.arin@uk-koeln.de
Mueller
Felix B
FB
D005786:Gene Expression Regulation; D006801:Humans; D007633:Keratins / Q000235:genetics*; D009154:Mutation; D012873:Skin Diseases, Genetic / Q000235:genetics* / Q000473:pathology
D007633:Keratins