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FLASH GENE
Symbol PDE6A contributors: shn/npt - updated : 20-12-2022
HGNC name phosphodiesterase 6A, cGMP-specific, rod, alpha
HGNC id 8785
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     plasma membrane
        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
  • binding of PDE6A farnesyl is essential to normal function of AIPL1 and its disruption is one of the mechanisms underlying Leber congenital amaurosis
  • PDE6 holoenzyme consists of catalytic and inhibitory subunits in phototransduction cascade, and PDE6A and PDE6B code for the catalytic and PDE6G the inhibitory subunits in rods
    • 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
  • AIPL1 has been shown to bind the farnesylated PDE6A subunit
    • 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