Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha is an enzyme that in humans is encoded by the PDE6Agene.[5][6][7]
PDE6A 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. Mutations in PDE6A have been identified as one cause of autosomal recessive retinitis pigmentosa.[6]
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Pittler SJ, Baehr W, Wasmuth JJ, McConnell DG, Champagne MS, vanTuinen P, Ledbetter D, Davis RL (Apr 1990). "Molecular characterization of human and bovine rod photoreceptor cGMP phosphodiesterase alpha-subunit and chromosomal localization of the human gene". Genomics. 6 (2): 272–83. doi:10.1016/0888-7543(90)90567-E. PMID2155175.
Huang SH, Pittler SJ, Huang X, et al. (1996). "Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase". Nat. Genet. 11 (4): 468–71. doi:10.1038/ng1295-468. PMID7493036. S2CID40530227.
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Mohamed MK, Taylor RE, Feinstein DS, et al. (1998). "Structure and upstream region characterization of the human gene encoding rod photoreceptor cGMP phosphodiesterase alpha-subunit". J. Mol. Neurosci. 10 (3): 235–50. doi:10.1007/BF02761777. PMID9770645. S2CID27495644.
Dryja TP, Rucinski DE, Chen SH, Berson EL (1999). "Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa". Invest. Ophthalmol. Vis. Sci. 40 (8): 1859–65. PMID10393062.
Riazuddin SA, Zulfiqar F, Zhang Q, et al. (2006). "Mutations in the gene encoding the alpha-subunit of rod phosphodiesterase in consanguineous Pakistani families". Mol. Vis. 12: 1283–91. PMID17110911.
