The molecular basis of human keratin disorders

Hum Genet. 2009 May;125(4):355-73. doi: 10.1007/s00439-009-0646-5. Epub 2009 Feb 27.


Keratins are cytoskeletal proteins that provide structural support to epithelial cells and tissues. Perturbation causes cell and tissue fragility and accounts for a large number of genetic disorders in humans. In humans, 54 functional keratin genes exist and 21 different keratin genes including hair keratins and hair follicle-specific epithelial keratins have been associated with hereditary disorders. Moreover, keratins have been implicated in more complex traits such as liver disease and inflammatory bowel disease. Understanding the molecular basis of keratin disorders has been the basis for improved diagnosis with prognostic implications, genetic counseling and prenatal testing for severe disorders. Besides their mechanical role, keratins have newly identified functions in apoptosis, cell growth, tissue polarity, wound healing and tissue remodeling. Improved understanding of the regulatory functions of keratins may offer novel approaches to overcome current treatment limitations.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Corneal Dystrophies, Hereditary / genetics
  • Corneal Dystrophies, Hereditary / metabolism
  • Humans
  • Inflammatory Bowel Diseases / genetics
  • Inflammatory Bowel Diseases / metabolism
  • Keratins / chemistry
  • Keratins / genetics*
  • Keratins / metabolism*
  • Liver Diseases / genetics
  • Liver Diseases / metabolism
  • Mutation*
  • Skin Diseases, Genetic / genetics*
  • Skin Diseases, Genetic / metabolism*
  • Skin Diseases, Genetic / pathology


  • Keratins