Entrez gene ID | | 2312 |
Official gene symbol | | FLG |
Full name | | filaggrin |
Aliases | | ,ATOD2, |
Gene summary | | 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. |
Location | | Chromosome: 1 Locus: 1q21.3 |
Gene position | | 152297679 - 152274651 Map Viewer |
Gene orientation | | minus |
Gene size | | 23029 bp |
Gene sequence |
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OMIM ID | | 135940 |
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