Bio Background |
This gene encodes a retina-specific guanylate cyclase, which is a member of the membrane guanylyl cyclase family. Likeother membrane guanylyl cyclases, this enzyme has a hydrophobicamino-terminal signal sequence followed by a large extracellulardomain, a single membrane spanning domain, a kinase homologydomain, and a guanylyl cyclase catalytic domain. In contrast toother membrane guanylyl cyclases, this enzyme is not activated bynatriuretic peptides. Mutations in this gene result in Lebercongenital amaurosis and cone-rod dystrophy-6 diseases. [providedby RefSeq]. |
Bio References |
Silva, L.K., et al. Eur. J. Hum. Genet. 18(11):1221-1227(2010)Liu, C.Y., et al. Carcinogenesis 31(7):1259-1263(2010)Joslyn, G., et al. Alcohol. Clin. Exp. Res. 34(5):800-812(2010)Pasadhika, S., et al. Invest. Ophthalmol. Vis. Sci. 51(5):2608-2614(2010)Sundaresan, P., et al. Mol. Vis. 15, 1781-1787 (2009) : |