This gene encodes the cyclic-GMP (cGMP)-specific phosphodiesterase 6A alpha subunit, expressed in cells of the retinal rod outer segment. The phosphodiesterase 6 holoenzyme is a heterotrimer composed of an alpha, beta, and two gamma subunits. cGMP is an important regulator of rod cell membrane current, and its dynamic concentration is established by phosphodiesterase 6A cGMP hydrolysis and guanylate cyclase cGMP synthesis. The protein is a subunit of a key phototransduction enzyme and participates in processes of transmission and amplification of the visual signal. Mutations in this gene have been identified as one cause of autosomal recessive retinitis pigmentosa.
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Protein Aliases: cGMP phosphodiesterase alpha; cGMP phosphodiesterase alpha subunit; GMP-PDE alpha; PDE V-B1; phosphodiesterase 6A, cGMP-specific, rod, alpha; Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha; rod photoreceptor cGMP phosphodiesterase alpha subunit
Gene Aliases: CGPR-A; nmf282; PDE6A; PDEA; RP43
UniProt ID: (Human) P16499