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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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