KRT14 Gene

KRT14 (keratin 14) is a protein-coding gene located on chromosome 17q21.2.This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. The encoded protein, a type I keratin, normally exists as a heterotetramer with two keratin 5 molecules and one type II keratin. Together, they form the cytoskeleton of epithelial cells. At least one pseudogene has been identified at 17p12-p11. Mutations in the genes for these keratins have been associated with the following diseases.

• Epidermolysis bullosa simplex with mottledhyperpigmentation (mottled pigmentation).
• Epidermolysis bullosa simplex localized (Weber-Cockayne type)
• Epidermolysis bullosa simplex generalized intermediate (Köbner type)
• Epidermolysis bullosa simplex generalized severe (Dowling-Meara)
• Dermatopathia pigmentosa reticularis (diffuse patchy hyperpimentation, onychodystrophy, focal alopecia and palmoplantar keratoses)
• Naegeli-Franceschetti-Jadassohn syndrome (ectodermal dysplasia with punctate or linear palmoplantar keratosis with reticular pigmentation, loss of dermatoglyphs, dental defects, anhidrosis).

In bronchial carcinoma, high expression of keratin 14 may be associated with nodal metastasis and poor survival.

1. Elias L et al (2020) Dermatopathia pigmentosa reticularis with beard alopecia: first report from Syria. Oxf Med Case Reports 2020:omaa079.
2. Datta A et al (2019) Dermatopathia pigmentosa reticularis. Indian J Dermatol 64:149-151.
3. Hauss H et al (1958) Dermatopathia pigmentosa reticularis. Dermatol Wochenschr138:1337.
4. Ralser DJ et al (2020) Identification of a founder mutation in KRT14 associated with Naegeli-Franceschetti-Jadassohn syndrome. Br J Dermatol. 183:756-757.
5. Yao S et al. (2019) Keratin 14-high subpopulation mediates lung cancer metastasis potentially through Gkn1 upregulation. Oncogene. 38: 6354-6369.