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This is the first report describing a nonsense mutation in RGS9.
five unrelated patients with recessive mutations in the genes encoding either RGS9 or R9AP who report difficulty adapting to sudden changes in luminance levels mediated by cones
homozygous mutations in R9AP gene that encodes the photoreceptor GTPase accelerating protein and its anchor protein, respectively, have been identifird in patients with bradyopsia.
As the light level is increased and the PDE6* concentration in the normal rises relative to that in the observer lacking RGS9-1, the temporal advantage of the latter is soon lost, leaving only the deficit due to delayed deactivation.
R9AP is actively targeted in rods by its SNARE homology domain.
the presence of a second, R9AP-expressing transgene in the iCre75 mouse line, leading to altered kinetics of phototransduction.
Under dim-light conditions vision is unaffected in transgenic mice overexpressing R9AP in rod photoreceptors.
Data report a surprising observation that the knockout of RGS9 causes a delay in ERG b-wave responses essentially identical to that observed in the R9AP knockout.
This study indicated that R9AP is required for stable expression of RGS11-Gbeta5 in ON-bipolar cell dendrites.
photoreceptors R9AP determines the stability of the RGS9.Gbeta5 complex, and therefore all three proteins, RGS9, Gbeta5 , and R9AP, are obligate members of the regulatory complex that speeds the rate at which transducin hydrolyzes GTP.
The protein encoded by this gene functions as a regulator of G protein-coupled receptor signaling in phototransduction. Studies in bovine and mouse show that this gene is expressed only in the retina, and is localized in the rod outer segment membranes. This protein is associated with a heterotetrameric complex, specifically interacting with the regulator of G-protein signaling 9, and appears to function as the membrane anchor for the other largely soluble interacting partners. Mutations in this gene are associated with prolonged electroretinal response suppression (PERRS), also known as bradyopsia.
RGS9 anchor protein
, RGS9-anchoring protein
, regulator of G-protein signaling 9-binding protein
, regulator of G-protein signalling 9 binding protein
, RGS9-1 anchoring protein R9AP
, RGS9-anchor protein
, regulator of G protein signalling 9 binding protein
, RGS9-anchoring protein A
, regulator of G-protein signaling 9-binding protein A
, RGS9-1 anchor