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Comments and Description Text from UniProtKB
ID:FILA_HUMAN DESCRIPTION: RecName: Full=Filaggrin; FUNCTION: Aggregates keratin intermediate filaments and promotes disulfide-bond formation among the intermediate filaments during terminal differentiation of mammalian epidermis. TISSUE SPECIFICITY: Keratohyalin granules. 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). 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 are a cause of susceptibility to dermatitis atopic type 2 (ATOD2) [MIM:605803]. Atopic dermatitis is a complex, inflammatory disease with multiple alleles at several loci thought to be involved in the pathogenesis. It commonly begins in infancy or early childhood and is characterized by a chronic relapsing form of skin inflammation, a disturbance of epidermal barrier function that culminates in dry skin, and IgE- mediated sensitization to food and environmental allergens. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. SIMILARITY: Belongs to the S100-fused protein family. SIMILARITY: Contains 2 EF-hand domains. SIMILARITY: Contains 23 filaggrin repeats. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FLG";
ModBase Predicted Comparative 3D Structure on P20930
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