Structural highlights
Disease
OPSG_HUMAN Blue cone monochromatism;Cone rod dystrophy;X-linked cone dysfunction syndrome with myopia. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry.
Function
OPSG_HUMAN Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal.[1] [2] [3] C562_ECOLX Electron-transport protein of unknown function.
References
- ↑ Ueyama H, Kuwayama S, Imai H, Tanabe S, Oda S, Nishida Y, Wada A, Shichida Y, Yamade S. Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies. Biochem Biophys Res Commun. 2002 Jun 7;294(2):205-9. PMID:12051694 doi:10.1016/S0006-291X(02)00458-8
- ↑ Winderickx J, Sanocki E, Lindsey DT, Teller DY, Motulsky AG, Deeb SS. Defective colour vision associated with a missense mutation in the human green visual pigment gene. Nat Genet. 1992 Jul;1(4):251-6. PMID:1302020 doi:10.1038/ng0792-251
- ↑ Nathans J, Thomas D, Hogness DS. Molecular genetics of human color vision: the genes encoding blue, green, and red pigments. Science. 1986 Apr 11;232(4747):193-202. PMID:2937147 doi:10.1126/science.2937147
