KRT9 Gene

The KRT9 gene is a protein coding gene located on chromosome 17 q21.2. Diseases associated with KRT9 include:

• Keratosis palmoplantaris diffusa with mutations in keratin 9 (syn: diffuse keratosis plamoplantaris type Unna-Vost-Wörner).

The KRT9 gene encodes type I keratin 9, an intermediate filament chain expressed only in the terminally differentiated epidermis of the palms and soles. Plays a role in the assembly of keratin filaments.

1. Alsaleh QA et al (1990) Autosomal recessive epidermolytic palmoplantar keratoderma. J Med Genet 27: 519-522
2. Anderson IF et al (1961) Hypovitaminosis-A in a family with tylosis and clinodactyly. Brit Med J 1: 1293-1297.
3. Bergstrom C (1967) Keratodermia palmaris et plantaris. North Med 78: 155-156.
4. Blanchet-Bardon C et al (1987) Hereditary epidermolytic palmoplantar keratoderma associated with breast and ovarian cancer in a large kindred. Brit. J. Derm 117: 363-370.
5. Li Y et al. (2019) Genetic Analysis of KRT9 Gene Revealed Previously Known Mutations and Genotype-Phenotype Correlations in Epidermolytic Palmoplantar Keratoderma. Front Genet 9:645.
6. Lopez-Valdez J et al (2013) Analysis of the KRT9 gene in a Mexican family with epidermolytic palmoplantar keratoderma. Pediatr Dermatol 30:354-358.