Rhodopsin / RHO (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, Jul 2008]

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

Chromosomal Location of Human Ortholog: 3q21-q24

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

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

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

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