RGS9BP Chromosome 19
Regulator of G protein signaling 9 binding protein
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What This Gene Does
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. [provided by RefSeq, Mar 2010]
Associated Conditions (2)
Prolonged electroretinal response suppression 2
Bradyopsia
Key Variants
RS2513249060
drug response
Prolonged electroretinal response suppression 2, Prolonged electroretinal response suppression 2
Drug Response
RS752779257
drug response
Prolonged electroretinal response suppression 2, Prolonged electroretinal response suppression 2
Drug Response
RS201148742
Conflicting classifications of pathogenicity
Health Risk
RS757764760
Conflicting classifications of pathogenicity
Prolonged electroretinal response suppression 2, Prolonged electroretinal response suppression 2
Health Risk
RS1968005848
Pathogenic
Bradyopsia, Bradyopsia
Health Risk
RS1968006085
Pathogenic
Prolonged electroretinal response suppression 2, Prolonged electroretinal response suppression 2
Health Risk
RS758583548
Pathogenic
Bradyopsia, Bradyopsia
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2513249060 | Drug Response | drug response | Prolonged electroretinal response suppression 2, Prolonged electroretinal response suppression 2 |
| RS752779257 | Drug Response | drug response | Prolonged electroretinal response suppression 2, Prolonged electroretinal response suppression 2 |
| RS201148742 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS757764760 | Health Risk | Conflicting classifications of pathogenicity | Prolonged electroretinal response suppression 2, Prolonged electroretinal response suppression 2 |
| RS1968005848 | Health Risk | Pathogenic | Bradyopsia, Bradyopsia |
| RS1968006085 | Health Risk | Pathogenic | Prolonged electroretinal response suppression 2, Prolonged electroretinal response suppression 2 |
| RS758583548 | Health Risk | Pathogenic | Bradyopsia, Bradyopsia |