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FLASH GENE
Symbol COL9A3 contributors: - updated : 30-04-2007
HGNC name collagen, type IX, alpha 3
HGNC id 2219
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • fibril associated collagen with interrupted triple helices (FACIT)
  • family
  • thrombospondin N terminal-like domain
  • mono polymer heteromer , trimer
    HOMOLOGY
    Homologene
    FAMILY
  • collagen superfamily
  • fibril-associated collagens with interrupted helices (FACIT) family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
    text ocular vitreous extracellular matrix
    basic FUNCTION
  • essential for the assembly of type IX collagen molecules and of extracellular matrix
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text skeletal development
    PATHWAY
    metabolism
    signaling
    a component heterotrimerizing with COL9A1 and COL9A2
    INTERACTION
    DNA
    RNA
    small molecule
    protein COLI, COLII fibers
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EDM3
    Susceptibility to lumbar disk disease
    Variant & Polymorphism other ARg103->TRP risk factor for lumbar disk disease
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS