External Ids for FLG Gene
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]
GeneCards Summary for FLG Gene
FLG (Filaggrin) is a Protein Coding gene. Diseases associated with FLG include dominant ichthyosis vulgaris and dermatitis, atopic 2. Among its related pathways are AhR pathway (WikiPathways). GO annotations related to this gene include calcium ion binding and structural molecule activity. An important paralog of this gene is TCHHL1.
UniProtKB/Swiss-Prot for FLG Gene
Aggregates keratin intermediate filaments and promotes disulfide-bond formation among the intermediate filaments during terminal differentiation of mammalian epidermis