Regular ArticleCharacterization of the Gene Encoding Human Cone Transducin α-Subunit (GNAT2)
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A Novel Homozygous GRK1 Mutation (P391H) in 2 Siblings with Oguchi Disease with Markedly Reduced Cone Responses
2007, OphthalmologyCitation Excerpt :Second, mutations or polymorphisms in other (GRK7 or cone-arrestin36–38) genes related to cone opsin deactivation may function as genetic modifiers. Third, mutations in genes encoding various proteins of the cone phototransduction cascade, such as cone α-transducin (guanine nucleotide binding protein, α-transducing activity polypeptide 239), α′ and γ subunits of the cone cGMP phosphodiesterase (phosphodiesterase 6C40,41 and phosphodiesterase 6H42), or α and β subunits of the cone cGMP-gated cation channel (cyclic nucleotide-gated channel, α-3,43 and cyclic nucleotide-gated channel, β-344,45) may be associated independently with detrimental effects in cones. In conclusion, our study demonstrated that Oguchi disease in Japanese patients results from mutations in not only the SAG gene but also the GRK1 gene.
Progressive Cone and Cone-Rod Dystrophies: Phenotypes and Underlying Molecular Genetic Basis
2006, Survey of OphthalmologyCitation Excerpt :In addition, cones have a specific transducin and cGMP-phosphodiesterase (PDE);51 indeed it remains a possibility that the different cone types may each have their own transducins, or at least α-transducin subunits.95 Rod transducin α- and γ-subunits are encoded by GNAT1137 and GNGT1175 respectively, while GNAT2122 and GNGT2142,143 encode the cone specific α- and γ-transducin subunits, respectively. There is also evidence that rods and cones have distinct β-transducin subunits.154
Retina-specific gene expression and improved DNA transfection in WERI-Rb1 retinoblastoma cells
2003, Biochimica et Biophysica Acta - Gene Structure and ExpressionMutations in the cone photoreceptor G-protein α-subunit gene GNAT2 in patients with achromatopsia
2002, American Journal of Human Genetics