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Keratin 14



keratin 14
Identifiers
Symbol KRT14
Alt. Symbols EBS3, EBS4
Entrez 3861
HUGO 6416
OMIM 148066
RefSeq NM_000526
UniProt P02533
Other data
Locus Chr. 17 q12-q21

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 cytoskeleton of epithelial cells.

Additional recommended knowledge

Pathology

Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex and Dermatopathy Pigmentosa Reticularis, both of which are autosomal dominant mutations [1].

References

  1. ^ Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. Am J Hum Genet. 2006 Oct;79(4):724-30.
 
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Keratin_14". A list of authors is available in Wikipedia.
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