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FLASH GENE
Symbol FLG contributors: mct/npt/pgu - updated : 16-05-2018
HGNC name filaggrin
HGNC id 3748
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY
  • S100-fused protein family
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,intermed filament
    basic FUNCTION
  • aggregating keratin filaments and promoting disulfite-bonding
  • integral part of the epidermis that plays a key role in engineering and maintaining the barrier function
  • having a key role in maintaining an effective skin barrier against the external environment
  • possible genetic modifier in other genodermatoses
  • FLG and FLG2 display a related structural organization, an identical pattern of expression and localization in epidermis, and proteolytic processing of a large precursor
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • constituent of the epidermal differentiation complex (EDC@)
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
  • intermediate filament associated protein (IFAP type I)
    • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) IVLG
    Susceptibility
  • to atopic dermatis, for the extrinsic subtype of AD, and with concomitant respiratory allergic diseases
    • Variant & Polymorphism other
  • R510X and 2282del4 are very strong predisposing factors for atopic dermatitis
  • four prevalent mutations (R501X, 2282del4, R2447X and S3247X)strongly associated to atopic dermatis
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS