Gene:
keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)
Gene ID:
194363
Symbol:
KRT14
Species:
1000
Description:
This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex. At least one pseudogene has been identified at 17p12-p11.