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FLASH GENE
Symbol CCDC66 contributors: mct - updated : 05-12-2012
HGNC name coiled-coil domain containing 66
HGNC id 27709
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY
CATEGORY
SUBCELLULAR LOCALIZATION
basic FUNCTION
  • important role in the visual cascade
  • key role of CCDC66 in proper retinal function and vision
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS visual cycle
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • in Schapendoes dogs, a mutation in the Ccdc66 gene has been shown to cause autosomal recessively inherited, generalized progressive retinal atrophy (gPRA)
  • lack of Ccdc66 in the novel Ccdc66 -/- mouse leads to an early photoreceptor degeneration, with a slow, progressive retinal phenotype and physiological impairment of the retina