KRT10 Gene

KRT10 (KRT10 stands for keratin 10) is a protein coding gene located on chromosome 17q21.2.

Diseases associated with KRT10 include:

• Congenital reticular ichthyosiform erythroderma (CRIE - OMIM: 609165).
• Superficial epidermolytic ichthyosis (SEI - OMIM:146800)
• Epidermolytic ichthyosis (EI-OMIM: 113800)
• Autosomal recessive epidermolytic ichthyosis (AREI - OMIM 113800) (Vodo D et al (2018).
• Epidermolytic nevus (OMIM: 113800)

This gene encodes a member of the type I (acidic) cytokeratin family, which belongs to the intermediate filament (IF) protein superfamily. Keratins are heteropolymeric structural proteins that form the intermediate filament. These filaments, together with actin microfilaments and microtubules, form the cytoskeleton of epithelial cells. Mutations in this gene are associated with keratinopathic ichthyosis. The KRT10 gene is located within a cluster of keratin family members on chromosome 17q21.

Microbial infection: KRT10 acts as a mediator of S.aureus adherence to desquamated nasal epithelial cells via clfB and thus may play a role in nasal infection. Furthermore, KRT10 binds S.pneumoniae PsrP and mediates adherence of the bacteria to lung cell lines. Reduction of KRT10 keratin decreases adherence, whereas overexpression increases adherence.

1. Covaciu C et al (2010) Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10. Br J Dermatol162:1384-1387.
2. March OP et al (2019) Gene Editing-Mediated Disruption of Epidermolytic Ichthyosis-Associated KRT10 Alleles Restores Filament Stability in Keratinocytes. J Invest Dermatol 139:1699-1710.e6.
3. Vodo D et al (2018) Recessive epidermolytic ichthyosis results from loss of keratin 10 expression, regardless of the mutation location. Clin Exp Dermatol 43:187-190.