(phosphodiesterase 6C, CGMP-Specific, Cone, alpha Prime (PDE6C))
This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4).
Simon, Khabou, Chaffiol, Rucli, Finzi, Norberg, Grimaud, Mücher, Desrosiers, Sancho, Bonilha, Grieve, Duebel, Paques, Picaud, Sahel, Audo, Herlitze, Dalkara: "Reactivating the phototransduction cascade with a mutation agnostic gene therapy preserves vision in rod-cone dystrophies." in: iScience, Vol. 28, Issue 4, pp. 112106, (2025) (PubMed).
Xu, Morris, Thapa, Ma, Michalakis, Biel, Baehr, Peshenko, Dizhoor, Ding: "cGMP accumulation causes photoreceptor degeneration in CNG channel deficiency: evidence of cGMP cytotoxicity independently of enhanced CNG channel function." in: The Journal of neuroscience : the official journal of the Society for Neuroscience, Vol. 33, Issue 37, pp. 14939-48, (2013) (PubMed).