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.
- 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.
- 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.
