filaggrin
Last updated 11 Apr 2023
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The FLG gene provides instructions for making a large protein called profilaggrin, which is found in cells that make up the outermost layer of skin (the epidermis). Profilaggrin is cut (cleaved) to produce multiple copies of the filaggrin protein, which is important for the structure of the epidermis. The profilaggrin molecule can contain 10, 11, or 12 copies of the filaggrin protein, depending on the genetics of the individual. Further processing of the filaggrin protein produces other molecules that play a role in hydration of the skin.
Normal function
The FLG gene provides instructions for making a large protein called profilaggrin, which is found in cells that make up the outermost layer of skin (the epidermis). Profilaggrin is cut (cleaved) to produce multiple copies of the filaggrin protein, which is important for the structure of the epidermis. The profilaggrin molecule can contain 10, 11, or 12 copies of the filaggrin protein, depending on the genetics of the individual. Further processing of the filaggrin protein produces other molecules that play a role in hydration of the skin.
The epidermis acts as a barrier to help minimize water loss and protect the body from foreign substances, including toxins, bacteria, and substances that can cause allergic reactions (allergens), such as pollen and dust mites. Filaggrin plays an important role in the skin's barrier function. It brings together structural proteins in the outermost skin cells to form tight bundles, flattening and strengthening the cells to create a strong barrier. In addition, processing of filaggrin proteins leads to production of molecules that are part of the skin's "natural moisturizing factor," which helps maintain hydration of the skin. These molecules also maintain the correct acidity (pH) of the skin, which is another important aspect of the barrier.
Conditions referring to this gene or chromosome
Other names
ATOD2
epidermal filaggrin
Further reading and references
- filaggrin; MedlinePlus, National Library of Medicine.
- Brown SJ, McLean WH. One remarkable molecule: filaggrin. J Invest Dermatol. 2012 Mar;132(3 Pt 2):751-62. doi: 10.1038/jid.2011.393. Epub 2011 Dec 8.
- Irvine AD, McLean WH, Leung DY. Filaggrin mutations associated with skin and allergic diseases. N Engl J Med. 2011 Oct 6;365(14):1315-27. doi: 10.1056/NEJMra1011040. No abstract available.
- Liang Y, Chang C, Lu Q. The Genetics and Epigenetics of Atopic Dermatitis-Filaggrin and Other Polymorphisms. Clin Rev Allergy Immunol. 2016 Dec;51(3):315-328. doi: 10.1007/s12016-015-8508-5.
- Palmer CN, Irvine AD, Terron-Kwiatkowski A, Zhao Y, Liao H, Lee SP, Goudie DR, Sandilands A, Campbell LE, Smith FJ, O'Regan GM, Watson RM, Cecil JE, Bale SJ, Compton JG, DiGiovanna JJ, Fleckman P, Lewis-Jones S, Arseculeratne G, Sergeant A, Munro CS, El Houate B, McElreavey K, Halkjaer LB, Bisgaard H, Mukhopadhyay S, McLean WH. Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat Genet. 2006 Apr;38(4):441-6. doi: 10.1038/ng1767. Epub 2006 Mar 19.
- Rodriguez E, Baurecht H, Herberich E, Wagenpfeil S, Brown SJ, Cordell HJ, Irvine AD, Weidinger S. Meta-analysis of filaggrin polymorphisms in eczema and asthma: robust risk factors in atopic disease. J Allergy Clin Immunol. 2009 Jun;123(6):1361-70.e7. doi: 10.1016/j.jaci.2009.03.036.
- Smith FJ, Irvine AD, Terron-Kwiatkowski A, Sandilands A, Campbell LE, Zhao Y, Liao H, Evans AT, Goudie DR, Lewis-Jones S, Arseculeratne G, Munro CS, Sergeant A, O'Regan G, Bale SJ, Compton JG, DiGiovanna JJ, Presland RB, Fleckman P, McLean WH. Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet. 2006 Mar;38(3):337-42. doi: 10.1038/ng1743. Epub 2006 Jan 29.
- Thyssen JP, Godoy-Gijon E, Elias PM. Ichthyosis vulgaris: the filaggrin mutation disease. Br J Dermatol. 2013 Jun;168(6):1155-66. doi: 10.1111/bjd.12219. Epub 2013 May 6.
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