Keratins and Keratin Diseases


Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells. They comprise a large multigene family present in clusters in the human genome. Mutations in keratins cause a variety of human genodermatoses.

Keywords: keratin; keratin‐associated proteins; gene; expression; review; structure proteins

Figure 1.

Schematic diagram of an anagen hair follicle with adjacent epidermis.



Bawden CS, McLaughlan C, Nesci A and Rogers G (2001) A unique type I keratin intermediate filament gene family is abundantly expressed in the inner root sheaths of sheep and human hair follicles. Journal of Investigative Dermatology 116: 157–166.

Fuchs E and Weber K (1994) Intermediate filaments: structure, dynamics, function and disease. Annual Review of Biochemistry 63: 345–382.

Fuchs E and Karakesisoglou I (2001) Bridging cytoskeletal intersections. Genes and Development 15: 1–14.

Hesse M, Magin TM and Weber K (2001) Genes for intermediate filament proteins and the draft sequence of the human genome: novel keratin genes and a surprisingly high number of pseudogenes related to keratin genes 8 and 18. Journal of Cell Science 114: 2569–2575.

Irvine AD and McLean WHI (1999) Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype–genotype correlation. British Journal of Dermatology 140: 815–828.

Langbein L, Rogers MA, Praetzel S, et al. (2002) A novel epithelial keratin, hK6irs1, is expressed differentially in all layers of the inner root sheath, including specialized Huxley cells (‘Flügelzellen’) of the human hair follicle. Journal of Investigative Dermatology 118: 789–799.

Langbein L, Rogers MA, Winter H, Praetzel S and Schweizer J (2001) The catalog of human hair keratins. II. Expression of the six type II members in the hair follicle and the combined catalog of human type I and II keratins. Journal of Biological Chemistry 276: 35123–35132.

Langbein L, Rogers MA, Winter H, et al. (1999) The catalog of human hair keratins: I. Expression of the nine type I members in the hair follicle. Journal of Biological Chemistry 274: 19874–19884.

Parry DAD and Steinert PM (1995) Intermediate filament‐associated proteins. In: Parry DAD and Steinert PM (eds.) Intermediate Filament Structure, pp. 123–144. New York, NY: Springer‐Verlag.

Powell BC and Rogers GE (1997) The role of keratin proteins and their genes in the growth, structure and properties of hair. In: Jolles P, Zahn H and Höcker H (eds.) Formation and Structure of Human Hair, pp. 59–148. Basel: Birkhäuser Verlag.

Rogers MA, Langbein L, Winter H, et al. (2001) Characterization of a cluster of human high/ultrahigh sulfur keratin associated protein (KAP) genes embedded in the type I keratin gene domain on chromosome 17q 12–21 . Journal of Biological Chemistry 276: 19440–19451.

Rogers MA, Winter H, Langbein L, Wolf C and Schweizer J (2000) Characterization of a 300 kbp region of human DNA containing the type II hair keratin gene domain. Journal of Investigative Dermatology 114: 464–472.

Rogers MA, Winter H, Wolf C, Heck M and Schweizer J (1998) Characterization of a 190‐kilobase pair domain of human type I hair keratin genes. Journal of Biological Chemistry 273: 26683–26691.

Savtchenko ES, Tomic M, Ivker R and Blumenberg M (1990) Three parallel linkage groups of human acidic keratin genes. Genomics 7: 394–407.

Steinert PM and Roop DR (1988) Molecular and cellular biology of intermediate filaments. Annual Review of Biochemistry 57: 593–625.

Winter H, Langbein L, Krawczak M, et al. (2001) Human type I hair keratin pseudogene ψhHaA has functional orthologs in the chimpanzee and gorilla: evidence for recent inactivation of the human gene after the Pan‐Homo divergence. Journal of Human Genetics 108: 37–42.

Yoon S‐J, LeBlanc‐Straceski J, Ward D, Krauter K and Kucherlapati R (1994) Organization of the human keratin type II gene cluster at 12q13. Genomics 24: 502–508.

Further Reading

Fuchs E (1997) Of mice and men: genetic disorders of the cytoskeleton. Molecular Biology of the Cell 8: 189–203.

Heid HW, Werner E and Franke WW (1986) The complement of native alpha‐keratin polypeptides of hair‐forming cells: a subset of eight polypeptides that differ from epithelial cytokeratins. Differentiation; Research in Biological Diversity 32: 101–119.

Jones LN and Steinert PM (1996) Hair keratinization in health and disease. Dermatological Clinics 14: 633–650.

Lane EB (1994) Keratin diseases. Current Opinion in Genetics and Development 4: 412–418.

Moll R, Franke WW, Schiller DL, Geiger B and Krepler R (1982) The catalog of human cytokeratins: patterns of expression in normal epithelia, tumors and cultured cells. Cell 31: 11–24.

Swift JA (1977) The histology of keratin fibers. In: Asquito RS (ed.) Chemistry of Natural Protein Fibers, pp. 81–146. New York, NY: Plenum Press.

Web Links

Online Mendelian Inheritance in Man (OMIM). Online catalog of human diseases and genetic disorders

keratin 1 (epidermolytic hyperkeratosis). LocusID: 3848

keratin, hair, acidic, 5. LocusID: 3886

keratin 1 (epidermolytic hyperkeratosis). MIM number: 139350‐post/Omim/dispmim?139350

keratin, hair, acidic, 5. MIM number: 602764‐post/Omim/dispmim?602764

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How to Cite close
Rogers, MA(Jan 2006) Keratins and Keratin Diseases. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0005905]