Entrez 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.[provided by RefSeq, Dec 2009].
UniProt Summary: Aggregates keratin intermediate filaments and promotes disulfide-bond formation among the intermediate filaments during terminal differentiation of mammalian epidermis.
Pfam DomainsGO Terms
Pfam Domains
S 100
Filaggrin
GO Terms
keratohyalin granule
structural constituent of epidermis
transition metal ion binding
establishment of skin barrier
regulation of water loss via skin
peptide cross-linking
cornified envelope
multicellular organismal water homeostasis
water homeostasis
cornification
intermediate filament
structural molecule activity
keratinization
keratinocyte differentiation
epidermal cell differentiation
multicellular organismal homeostasis
collagen-containing extracellular matrix
skin development
epidermis development
regulation of body fluid levels
epithelial cell differentiation
intracellular membrane-bounded organelle
calcium ion binding
programmed cell death
cell death
chemical homeostasis
epithelium development
homeostatic process
tissue development
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)