Filaggrin
From Wikipedia, the free encyclopedia
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filaggrin
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| 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]
Antibodies to citrullinated filaggrin creates an epitope that is recognized by autoantibodies in rheumatoid arthritis.[2]
[edit] 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:. PMID 17291859.
- ^ Schellekens GA, de Jong BA, van den Hoogen FH, van de Putte LB, van Venrooij WJ (January 1998). "Citrulline is an essential constituent of antigenic determinants recognized by rheumatoid arthritis-specific autoantibodies". J. Clin. Invest. 101 (1): 273–81. doi:. PMID 9421490. Full text at PMC: 508564
[edit] 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:. 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:. PMID 16815158.
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