Keratin 1

Keratin 1 is a type of keratin that is specifically expressed in the spinous and granular layers of the epidermis with family member keratin 10. Mutations in this gene have been associated with the variants of bullous congenital ichthyosiform erythroderma, a skin condition that causes redness and scaling.

Structure

Keratin 1 is a member of the keratin family. It is a type I keratin, which pairs with type II keratins to form hair and nails. The protein encoded by this gene is a major cellular protein of mature epithelial cells where it is found primarily within the cytoskeleton.

Function

Keratin 1 plays a vital role in the formation of the intermediate filament network, which provides mechanical support and resilience to the cells. It also plays a role in the regulation of protein synthesis and epithelial cell growth.

Clinical significance

Mutations in the gene encoding Keratin 1 have been associated with epidermolytic hyperkeratosis, a skin disorder characterized by blistering and a marked thickening of the stratum corneum.

See also

• Keratin
• Epidermis
• Epidermolytic hyperkeratosis
• Bullous congenital ichthyosiform erythroderma

References

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