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FLASH GENE
Symbol CCDC66 contributors: mct - updated : 05-12-2012
HGNC name coiled-coil domain containing 66
HGNC id 27709
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
18 - 3152 109 968 - 2011 21680557
20 - 3133 105 914 - 2011 21680557
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Visualeyeretina  moderately Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Visualrod photoreceptor Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
Text
  • expressed predominantly in the developing rod outer segments
  • 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