Gene: RGR

Alternate names for this Gene: RP44

Gene Summary: This gene encodes a putative retinal G-protein coupled receptor. The gene is a member of the opsin subfamily of the 7 transmembrane, G-protein coupled receptor 1 family. Like other opsins which bind retinaldehyde, it contains a conserved lysine residue in the seventh transmembrane domain. The protein acts as a photoisomerase to catalyze the conversion of all-trans-retinal to 11-cis-retinal. The reverse isomerization occurs with rhodopsin in retinal photoreceptor cells. The protein is exclusively expressed in tissue adjacent to retinal photoreceptor cells, the retinal pigment epithelium and Mueller cells. This gene may be associated with autosomal recessive and autosomal dominant retinitis pigmentosa (arRP and adRP, respectively). Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 10

Location in Chromosome : 10q23.1

Description of this Gene: retinal G protein coupled receptor

Type of Gene: protein-coding

rs10887265 in RGR gene and Myopia PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

rs104894187 in RGR gene and RETINITIS PIGMENTOSA 44 PMID 10581022 1999 Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa.

rs1554824273 in RGR gene and Retinal Dystrophies PMID 10581022 1999 Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa.