Keratin 14

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Template:Infobox gene Keratin 14 is a member of the type I keratin family of intermediate filament proteins. Keratin 14 was the first type I keratin sequence determined.[1] Keratin 14 is also known as cytokeratin-14 (CK-14) or keratin-14 (KRT14). In humans it is encoded by the KRT14 gene.[2][3][4]

Keratin 14 is usually found as a heterodimer with type II keratin 5 and form the cytoskeleton of epithelial cells.

Pathology

Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex and Dermatopathia pigmentosa reticularis, both of which are autosomal dominant mutations.[5]

See also

References

  1. Hanukoglu I, Fuchs E (Nov 1982). "The cDNA sequence of a human epidermal keratin: divergence of sequence but conservation of structure among intermediate filament proteins". Cell. 31 (1): 243–52. PMID 6186381. doi:10.1016/0092-8674(82)90424-X. 
  2. Coulombe PA, Hutton ME, Letai A, Hebert A, Paller AS, Fuchs E (Sep 1991). "Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses". Cell. 66 (6): 1301–11. PMID 1717157. doi:10.1016/0092-8674(91)90051-Y. 
  3. Schweizer J, Bowden PE, Coulombe PA, Langbein L, Lane EB, Magin TM, Maltais L, Omary MB, Parry DA, Rogers MA, Wright MW (Jul 2006). "New consensus nomenclature for mammalian keratins". The Journal of Cell Biology. 174 (2): 169–74. PMC 2064177Freely accessible. PMID 16831889. doi:10.1083/jcb.200603161. 
  4. "Entrez Gene: KRT14 keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)". 
  5. Lugassy J, Itin P, Ishida-Yamamoto A, Holland K, Huson S, Geiger D, Hennies HC, Indelman M, Bercovich D, Uitto J, Bergman R, McGrath JA, Richard G, Sprecher E (Oct 2006). "Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14". American Journal of Human Genetics. 79 (4): 724–30. PMC 1592572Freely accessible. PMID 16960809. doi:10.1086/507792. 

Further reading

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External links

Template:Cytoskeletal proteins


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