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==Pathology== |
==Pathology== |
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Mutations in the genes for these keratins are associated with [[epidermolysis bullosa]] simplex and [[ |
Mutations in the genes for these keratins are associated with [[epidermolysis bullosa]] simplex and [[Dermatopathia Pigmentosa Reticularis]], both of which are autosomal dominant mutations.<ref name="pmid16960809">{{cite journal | author = 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 = Am. J. Hum. Genet. | volume = 79 | issue = 4 | pages = 724–30 | year = 2006 | pmid = 16960809 | doi = 10.1086/507792 }}</ref> |
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==See also== |
==See also== |
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Template:PBB Keratin, type I cytoskeletal 14 is a protein that in humans is encoded by the KRT14 gene.[1][2][3]
Keratin 14 is a type I cytokeratin. It is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeletonofepithelial cells.
Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex and Dermatopathia Pigmentosa Reticularis, both of which are autosomal dominant mutations.[4]
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{{cite journal}}: Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)
{{cite journal}}: CS1 maint: multiple names: authors list (link)
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