A Splice Site Mutation in the Human Type I Hair Keratin Gene hHa1 Results in the Expression of a Tailless Keratin Isoform

December 1997 in “ Journal of Biological Chemistry ”

Hermelita Winter, Ilse Hofmann, Lutz Langbein, Michael A. Rogers, Jürgen Schweizer

splice site mutation human type I hair keratin hHa1 tailless keratin isoform intermediate filaments type II keratins autosomal dominant

Studysummary This study found that the hHa1-t protein variant, caused by a genetic polymorphism in the hHa1 gene, forms functional keratin filaments despite lacking a complete nonhelical tail domain, explaining the absence of a pathological hair phenotype.

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Research cited in this study

18 / 18 results

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