該基因編碼的蛋白質是一種中間絲相關蛋白,聚集了哺乳動物表皮的角蛋白中間絲。它最初被合成為一種多蛋白前體profilaggrin(由324a a的多個filaggrin單元組成),定位于角質透明蛋白顆粒中,隨后被蛋白質水解成單個功能性filaggrin分子。該基因突變與尋常性魚鱗病有關。[由RefSeq提供,2009年12月]
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]