Filaggrin
| filaggrin | |
|---|---|
| Identifiers | |
| Symbol | FLG |
| Entrez | 2312 |
| HUGO | 3748 |
| OMIM | 135940 |
| RefSeq | NM_002016 |
| UniProt | P20930 |
| Other data | |
| Locus | Chr. 1 q21.3 |
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Filaggrins are filament-associated proteins which bind to keratin fibers in epidermal cells.
Individuals with truncation mutations in the gene coding for filaggrin are stongly predisposed to a severe form of dry skin, (ichthyosis vulgaris), and/or eczema.
Scientists hope to develop treatments for eczema through their newfound knowledge of filaggrin.
Truncation mutations R501X and 2284del4 are the most common mutations in the Caucasian population, with 7-10% of the caucasian population carrying at least one copy of these mutations.
It has been shown that almost 50% of all severe cases of eczema may have at least one mutated filaggrin gene.
R501X and 2284del4 are not generally found in non-caucasian individuals, though novel mutations (3321delA and S2554X) have been found in Japanese populations that yield similar effects.[1]
References
- ↑ Nomura T, Sandilands A, Akiyama M; et al. (2007). "Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis". J. Allergy Clin. Immunol. 119 (2): 434–40. doi:10.1016/j.jaci.2006.12.646. PMID 17291859.
External links
- L J McKinley-Grant, W W Idler, I A Bernstein, D A Parry, L Cannizzaro, C M Croce, K Huebner, S R Lessin, and P M Steinert. Characterization of a cDNA clone encoding human filaggrin and localization of the gene to chromosome region 1q21.Proc Natl Acad Sci U S A. 1989 July; 86(13): 4848–4852.
- Palmer CN, Irvine AD, Terron-Kwiatkowski A; et al. (2006). "Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis". Nat. Genet. 38 (4): 441–6. doi:10.1038/ng1767. PMID 16550169.
- Weidinger S, Illig T, Baurecht H; et al. (2006). "Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations". J. Allergy Clin. Immunol. 118 (1): 214–9. doi:10.1016/j.jaci.2006.05.004. PMID 16815158.