KRT9 Gene

Last updated on: 23.12.2021

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

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.

Literature
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  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.

Last updated on: 23.12.2021