Overview:

PDE6A encodes the cyclic-GMP (cGMP)-specific phosphodiesterase 6A and is 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 (1). 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 (2).

Gene Aliases:

CGPR-A

Genbank Number:

NM_000440

References:

1. Pittler, S. J. et.al: Molecular characterization of human and bovine rod photoreceptor cGMP phosphodiesterase alpha- subunit and chromosomal localization of the human gene. Genomics 6: 272-283, 1990.

2. Danciger, M. et.al: Genetic mapping demonstrates that the alpha-subunit of retinal cGMP-phosphodiesterase is not the site of the rd mutation. Exp. Eye Res. 51: 185-189, 1990.