RGR Antibody – Rabbit Polyclonal

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. [provided by RefSeq, Jul 2008]

RGR: Receptor for all-trans- and 11-cis-retinal. Binds preferentially to the former and may catalyze the isomerization of the chromophore by a retinochrome-like mechanism. Defects in RGR are the cause of retinitis pigmentosa type 44 (RP44). RP44 is a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Belongs to the G-protein coupled receptor 1 family. Opsin subfamily. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Receptor, GPCR; Membrane protein, multi-pass; Membrane protein, integral; GPCR, family 1

Chromosomal Location of Human Ortholog: 10q23

Cellular Component: integral to plasma membrane

Molecular Function: G-protein coupled receptor activity; protein binding; chemokine receptor activity; photoreceptor activity

Biological Process: G-protein coupled receptor protein signaling pathway; visual perception; phototransduction; chemotaxis; protein-chromophore linkage

Disease: Retinitis Pigmentosa 44