KRT1 Gene

KRT1 (Keratin 1) is a protein coding gene located on chromosome 12 gene locus: 12q13.13. Diseases associated with KRT1 include:

• Keratosis plamoplantaris diffusa with mutations in keratin 1 type Greither.
• Cyclic ichthyosis with epidermolytic hyperkeratosis (Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis and Palmoplantar Keratoderma, Nonepidermolytic).

This cyclic ichthyosis with epidermolytic hyperkeratosispidermolytic (EI) is a rare keratinopathic ichthyosis (see there), with a blistering phenotype at birth that progressively develops into a hyperkeratotic phenotype. The disease is caused by mutations in the genes encoding epidermal suprabasal keratins 1 (KRT1; 12q13.13) and 10 (KRT10; 17q21-q23). This impairs the formation of the keratin intermediate filament in suprabasal keratinocytes. There is a genotype-phenotype correlation, with palmoplantar involvement usually associated with KRT1 mutations. The location of the mutation may influence the severity of the phenotype. An important paralogue of this gene is KRT2.

1. Joh GY et al (1997) A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma. J Invest Derm 108: 357-361
2. Sybert VP et al (1999) Cyclic ichthyosis with epidermolytic hyperkeratosis: a phenotype conferred by mutations in the 2B domain of keratin K1. Am J Hum Genet 64: 732-738.