Filaggrine

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Filaggrine
Properties of human protein
Mass / length primary structure 324 amino acids
Cofactor Ca 2+
Precursor Profile aggrin (4061 aa)
Identifier
Gene name FLG
External IDs
Occurrence
Parent taxon Mammals

As filaggrin refers to a group of mammal - proteins that the cornification of the skin in the keratinocytes are formed. Filaggrins help Keratin - filaments via disulfide bridges to cross and thus have structure-forming functions of the epidermis . Mutations in FLG - gene can be hereditary forms of ichthyosis vulgaris, as well as the susceptibility to atopic dermatitis type 2 ( Atopic Eczema for) with risk allergies cause.

In a study of 3000 German school children, a mutation in the FLG gene was found in eight percent of the children . In later studies, these mutations were associated with high IgE levels and a risk of contact dermatitis , especially grater skin , xeroderma and nickel allergy . Early contact with cats was found to be an additional factor in a British study.

biosynthesis

Profilaggrin is expressed and stored in the keratohyalin granules of the keratinocytes. Profilaggrin is a 4000 amino acid protein that is highly phosphorylated and contains 23 filaggrin domains . If the keratinocyte differentiates to the horny cell , the profilaggrin is dephosphorylated and cut apart at the filaggrin domains, resulting in many 324 amino acid long filaggrin molecules. Since the profilaggrin contains 23 filaggrin domains that overlap, there are several ways to cut a profilaggrin molecule. This explains the variety of possible filaggrines.

Individual evidence

  1. ↑ InterPro entry .
  2. ↑ a b UniProt P20930 .
  3. ↑ Weidinger S, Illig T, construction law H, et al. : Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations . In: J. Allergy Clin. Immunol. . 118, No. 1, July 2006, pp. 214-9. doi : 10.1016 / j.jaci.2006.05.004 . PMID 16815158 .
  4. ↑ Novak N, construction law H, Schäfer T, et al. : Loss-of-function mutations in the filaggrin gene and allergic contact sensitization to nickel . In: Journal of Investigative Dermatology . 128, No. 6, 2008, pp. 1430-5. doi : 10.1038 / sj.jid.5701190 . PMID 18049447 .
  5. ↑ Bisgaard H, Simpson A, Palmer CN, et al. : Gene-environment interaction in the onset of eczema in infancy: filaggrin loss-of-function mutations enhanced by neonatal cat exposure . In: PLoS Med . . 5, No. 6, 2008, p. E131. doi : 10.1371 / journal.pmed.0050131 . PMID 18578563 . PMC 2504043 (free full text).

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