This protein participates in processes of transmission and amplification of the visual signal.
Defects in PDE6A are the cause of retinitis pigmentosa type 43 (RP43) [MIM:613810]. RP43 is a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Belongs to the cyclic nucleotide phosphodiesterase family. Contains 2 GAF domains.
Iribarne M et al. Aipl1 is required for cone photoreceptor function and survival through the stability of Pde6c and Gc3 in zebrafish. Sci Rep7:45962 (2017).
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