Rhodopsin (RHO) Antibody – Mouse Monoclonal

Retinitis pigmentosa is an inherited progressive disease which is a major cause of blindness in western communities. It can be inherited as an autosomal dominant, autosomal recessive, or X-linked recessive disorder. In the autosomal dominant form,which comprises about 25% of total cases, approximately 30% of families have mutations in the gene encoding the rod photoreceptor-specific protein rhodopsin. This is the transmembrane protein which, when photoexcited, initiates the visual transduction cascade. Defects in this gene are also one of the causes of congenital stationary night blindness. [provided by RefSeq]

Rhodopsin: a G-protein coupled receptor. The light-absorbing visual pigment in Rod photoreceptor cells. Mediates vision in dim light. Consists of the apoprotein, opsin, covalently linked to cis-retinal. Defects in RHO are a cause of autosomal retinitis pigmentosa and congenital stationary night blindness.

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

Chromosomal Location of Human Ortholog: 3q21-q24

Cellular Component: Golgi membrane; Golgi apparatus; photoreceptor inner segment; photoreceptor outer segment; integral to plasma membrane; plasma membrane; intercellular junction; rough endoplasmic reticulum membrane

Molecular Function: G-protein coupled receptor activity; protein binding; spectrin binding; metal ion binding; photoreceptor activity; retinal binding

Biological Process: rhodopsin mediated signaling; G-protein coupled receptor protein signaling pathway; phototransduction, visible light; red, far-red light phototransduction; regulation of rhodopsin mediated signaling; visual perception; retina development in camera-type eye; organelle organization and biogenesis; retinoid metabolic process; protein-chromophore linkage; protein amino acid phosphorylation

Disease: Fundus Albipunctatus; Night Blindness, Congenital Stationary, Autosomal Dominant 1; Retinitis Pigmentosa 4