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产品应用
研究背景
The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009],disease:Defects in FLG are the cause of ichthyosis vulgaris (VI) [MIM:146700]; also known as ichthyosis simplex. Ichthyosis vulgaris is the most common form of ichthyosis inherited as an autosomal dominant trait. It is characterized by palmar hyperlinearity, keratosis pilaris and a fine scale that is most prominent over the lower abdomen, arms, and legs. Ichthyosis vulgaris is characterized histologically by absent or reduced keratohyalin granules in the epidermis and mild hyperkeratosis. The disease can be associated with frequent asthma, eczema or hay fever.,disease:Defects in FLG may be the cause of susceptibility to atopic dermatitis type 2 (ATOD2) [MIM:605803]. Atopic dermatitis, also known as eczema commonly begins in infancy or early childhook and is characterized by ichy and inflamed skin.,function:Aggregates keratin intermediate filaments and promotes disulfide-bond formation among the intermediate filaments during terminal differentiation of mammalian epidermis.,PTM:Filaggrin is initially synthesized as a large, insoluble, highly phosphorylated precursor containing many tandem copies of 324 AA, which are not separated by large linker sequences. During terminal differentiation it is dephosphorylated and proteolytically cleaved. The N-terminal of the mature protein is heterogeneous, and is blocked by the formation of pyroglutamate.,PTM:Undergoes deimination of some arginine residues (citrullination).,similarity:Belongs to the S100-fused protein family.,similarity:Contains 2 EF-hand domains.,similarity:Contains 23 filaggrin repeats.,tissue specificity:Keratohyalin granules.,
研究领域
