KRT5 Gene

Last updated on: 04.01.2022

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DefinitionThis section has been translated automatically.

KRT5 (keratin 5) is a protein-coding gene located on chromosome 12q13.13. Diseases associated with KRT5 include:

  • Epidermolysis bullosa simplex localized form (Weber-Cockayne).
  • Epidermolysis bullosa simplex severe generalized form (Dowling-Meara)
  • Epidermolysis bullosa simplex generalized intermediate form (Köbner)
  • Epidermolysis bullosa simplex with mottled pigmentation
  • Epidermolysis bullosa simplex type Ogna

General informationThis section has been translated automatically.

The protein encoded by this gene belongs to the family of type II - cytokeratin genes. The type II cytokeratins consist of basic or neutral proteins arranged in pairs of heterotypic keratin chains that are co-expressed during differentiation of simple and stratified epithelial tissues. KRT5 is specifically expressed in the basal layer of the epidermis with family member KRT14. Type II cytokeratins are clustered in a region of chromosome 12q12-q13.

LiteratureThis section has been translated automatically.

  1. Khani Pet al. (2020) Analysis of KRT5 and KRT14 gene mutations and mode of inheritance in Iranian patients with clinical suspicion of Epidermolysis bullosa simplex. Med J Islam Repub Iran 34:43.
  2. Wertheim-Tysarowska Ket al. (2016) Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation. J Appl Genet 57:175-181.

Last updated on: 04.01.2022