This product is an active protein and may elicit a biological response in vivo, handle with caution.
5''-cyclic phosphodiesterase subunit alpha
GMP PDE alpha
PDE 6 alpha
PDE V B1
Phosphodiesterase 6 alpha
Phosphodiesterase 6A alpha subunit
Phosphodiesterase 6A cGMP specific rod alpha
Retinal Rod Photoreceptor cGMP Phosphodiesterase alpha
Rod cGMP specific 3' 5' cyclic phosphodiesterase alpha subunit
Rod cGMP-specific 3''
This protein participates in processes of transmission and amplification of the visual signal.
Involvement in disease
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.