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FLASH GENE
Symbol PDE6A contributors: shn/npt - updated : 27-07-2009
HGNC name phosphodiesterase 6A, cGMP-specific, rod, alpha
HGNC id 8785
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
22 - 5659 100 860 retinal rod cells -
EXPRESSION
Type
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Visualeyeretina   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsensoryvisual  
cells
SystemCellPubmedSpeciesStageRna symbol
Visualcone photoreceptor
Visualrod photoreceptor
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two N terminal cGMP binding domains
  • a C terminal catalytic domain
  • HOMOLOGY
    interspecies ortholog to Pde6a, Rattus norvegicus
    ortholog to pde6a, Danio rerio
    ortholog to PDE6A, Pan troglodytes
    ortholog to Pde6a, Mus musculus
    Homologene
    FAMILY
  • cyclic nucleotide phosphodiesterase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • cGMP specific nucleotide phosphodiesterase, class VI, alpha subunit, rod photoreceptor
  • is a subunit of a key phototransduction enzyme which participates in processes of transmission and amplification of the visual signal
  • expression of PDE6 alpha in retina is essential for normal expression of PDE6 beta and PDE6 gama
  • key effector enzyme of the phototransduction cascade in rods and cones
  • catalytic PDE6A and PDE6B subunits are enzymatically equivalent
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text PDE
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
  • the phosphodiesterase 6 holoenzyme is a heterotrimer composed of an alpha, beta, and two gamma subunits
  • PDE6 hydrolyzes cGMP to GTP in photoreceptors during phototransduction
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PDE6 beta
  • PDE6 gamma
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) RP43
    related resource Retinal Information Network
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    canine model of arRP due to a PDE6A gene mutation shows puppies failing to develop normal rod-mediated ERG responses and reduced light-adapted a-wave amplitudes from an early age. Development of photoreceptor outer segments stopped, and rod cells were lost by apoptosis. Western blot analysis showed that the PDE6A mutation resulted in a lack of PDE6A protein and other PDE6 subunits