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==Pathology== |
==Pathology== |
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Mutations in the genes for these keratins are associated with [[epidermolysis bullosa]] simplex |
Mutations in the genes for these keratins are associated with [[epidermolysis bullosa]] simplex, [[dermatopathia pigmentosa reticularis]], and [[pachyonychia congenita]], all of which are autosomal dominant mutations.<ref name="pmid16960809">{{cite journal | vauthors = 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 | title = Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14 | journal = American Journal of Human Genetics | volume = 79 | issue = 4 | pages = 724–30 | date = Oct 2006 | pmid = 16960809 | pmc = 1592572 | doi = 10.1086/507792 }}</ref> |
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== See also == |
== See also == |
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.[5] Keratin 14 is also known as cytokeratin-14 (CK-14) or keratin-14 (KRT14). In humans it is encoded by the KRT14 gene.[6][7][8]
Keratin 14 is usually found as a heterodimer with type II keratin 5 and form the cytoskeletonofepithelial cells.
Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex, dermatopathia pigmentosa reticularis, and pachyonychia congenita, all of which are autosomal dominant mutations.[9]
Proteins of the cytoskeleton
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See also: cytoskeletal defects |