Filaggrin
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| filaggrin
| |
| Identifiers | |
| Symbol | FLG |
| Entrez | 2312 |
| HUGO | 3748 |
| OMIM | 135940 |
| RefSeq | NM_002016 |
| UniProt | P20930 |
| Other data | |
| Locus | Chr. 1 q21.3 |
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
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.
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Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
