Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis.

Article Details

Citation

Rothnagel JA, Dominey AM, Dempsey LD, Longley MA, Greenhalgh DA, Gagne TA, Huber M, Frenk E, Hohl D, Roop DR

Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis.

Science. 1992 Aug 21;257(5073):1128-30.

PubMed ID
1380725 [ View in PubMed
]
Abstract

Epidermolytic hyperkeratosis is a hereditary skin disorder characterized by blistering and a marked thickening of the stratum corneum. In one family, affected individuals exhibited a mutation in the highly conserved carboxyl terminal of the rod domain of keratin 1. In two other families, affected individuals had mutations in the highly conserved amino terminal of the rod domain of keratin 10. Structural analysis of these mutations predicts that heterodimer formation would be unaffected, although filament assembly and elongation would be severely compromised. These data imply that an intact keratin intermediate filament network is required for the maintenance of both cellular and tissue integrity.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Keratin, type II cytoskeletal 1P04264Details
Keratin, type I cytoskeletal 10P13645Details