KRT2 Gene

KRT2 (KRT2 stands for keratin 2) is a protein-coding gene located on chromosome 12q13.13.

Diseases associated with KRT2 include:

• Superficial epidermolytic ichthyosis (OMIM:146800).
• Congenital reticular ichthyosiform erythroderma (OMIM: 242300).
• Epidermolytic nevus (epidermolytic hamartoma) (OMIM: 113800)

The protein encoded by this gene belongs to the keratin gene family. 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. This type II cytokeratin is mainly expressed in the upper layer of the stratum spinosum of epidermal keratinocytes. It probably contributes to terminal keratinization. Furthermore, it is involved in the activation, proliferation and keratinization of keratinocytes and plays a role in the establishment of the epidermal barrier on the plantar skin. Type II cytokeratins are clustered in a region of chromosome 12q12-q13 .

1. Diociaiuti A et al (2020) First Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses. Int J Mol Sci 21:7707.
2. Hotz A et al (2016) Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis. Acta Derm Venereol 96:473-478.
3. Mohamad J et al (2021) Epidermolytic epidermal nevus caused by a somatic mutation in KRT2. Pediatr Dermatol 38:538-540.
4. Oji V (2010) Clinic and etiology of ichthyoses. Basis of the new nomenclature and classification dermatologist 61:891-902; quiz 903-4.