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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
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