Gene: RGS9

Alternate names for this Gene: PERRS|RGS9L

Gene Summary: This gene encodes a member of the RGS family of GTPase activating proteins that function in various signaling pathways by accelerating the deactivation of G proteins. This protein is anchored to photoreceptor membranes in retinal cells and deactivates G proteins in the rod and cone phototransduction cascades. Mutations in this gene result in bradyopsia. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 17

Location in Chromosome : 17q24.1

Description of this Gene: regulator of G protein signaling 9

Type of Gene: protein-coding

rs144542704 in RGS9 gene and Graves Disease PMID 30067105 2018 Thyrotropin receptor antibodies and a genetic hint in antithyroid drug-induced adverse drug reactions.

rs121908449 in RGS9 gene and Leber Congenital Amaurosis PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs121908449 in RGS9 gene and Prolonged Electroretinal Response Suppression PMID 14702087 2004 Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation.