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FLASH GENE
Symbol FBN3 contributors: mct/npt - updated : 26-01-2010
HGNC name fibrillin 3
HGNC id 18794
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • 44 EGF-like domain
  • multiple cysteine-rich domains
  • nine TGFBP (TGF-beta binding protein) repeats
    • conjugated GlycoP
    HOMOLOGY
    Homologene
    FAMILY
  • fibrillin family
    • CATEGORY secretory , structural protein
    SUBCELLULAR LOCALIZATION extracellular
    text extracellular matrix protein
    basic FUNCTION
  • structural component of connective tissue microfibrils that binds calcium
  • fibrillin-containing microfibrils provide long-term force bearing structural support
  • FBN1, FBN2, FBN3, are important in maintaining the structure and integrity of the extracellular matrix and, in combination with their sequence family members the LTBPs, also contribute to the regulation of the TGFB family of major growth factors
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
    • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to Polycystic ovary syndrome (PCOS)(minor role) (Prodoehl 2009)
    Variant & Polymorphism other allele A8 of D19S884, dinucleotide repeat microsatellite marker, which is located in intron 55 of the fibrillin-3 (FBN3) gene, is the chromosome 19p13.2 PCOS susceptibility locus (Urbanek 2007)
    Candidate gene for WMS2
    Marker
    Therapy target
    ANIMAL & CELL MODELS