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FLASH GENE
Symbol COL6A5 contributors: mct - updated : 15-06-2013
HGNC name collagen, type VI, alpha 5
HGNC id 26674
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a 336-AA triple helix flanked by seven N-terminal von Willebrand factor A-like domains
  • a collagenous domain
  • three C-terminal von Willebrand factor A domains, and a unique domain
  • HOMOLOGY
    Homologene
    FAMILY
  • type VI collagen family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
    intracellular,cytoplasm,organelle,peroxisome
    basic FUNCTION
  • playing a role in epidermal integrity and function, the breakdown of which is a clinical hallmark of atopic dermatitis
  • may have a specialized function in tissue areas subjected to tensile stress
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • to atopic dermatitis
  • to AD pathogenesis and chronic obstructive pulmonary disease and asthma
  • Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS