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KRT1

MIM.139350 12q13

Tuesday 6 July 2004

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Keratin 1 is a member of the keratin family (KRTs). It is specifically expressed in the spinous and granular layers of the epidermis with family member keratin 10 (KRT10).

The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the spinous and granular layers of the epidermis with family member KRT10 and mutations in these genes have been associated with bullous congenital ichthyosiform erythroderma.

The type II cytokeratins are clustered in a region of chromosome 12q12-q13.[1]

Keratin-1 is a specific marker for terminal differentiation in mammalian epidermis.

Pathology

Mutations in this gene have been associated with the variants of bullous congenital ichthyosiform erythroderma in which the palms and soles of the feet are affected.

Pathology

- germline heterozygous mutation in

  • epidermolytic hyperkeratosis (MIM.113800)
  • nonepidermolytic palmoplantar keratoderma (Unna-Thost disease) (MIM.600962)
  • autosomal dominant cyclic ichthyosis with epidermolytic hyperkeratosis (MIM.607602)
  • palmoplantar keratoderma (MIM.144200)
  • striata palmoplantaris keratosis (SPPK) (MIM.607654)
  • in ichthyosis hystrix, Curth-Macklin type (IHCM) (MIM.146590)
  • late onset epidermolytic hyperkeratosis (MIM.113800)