Description
Product Characteristics: Rhodopsin consists of the protein moiety opsin and a reversibly covalently bound cofactor, retinal. Opsin, a bundle of seven membrane embedded alpha-helices, binds retinal, a photo reactive chromophore, in a central pocket (2, 3). In addition to being the pigment of the retina that is responsible for both the formation of the photoreceptor cells, its function is to specifically convey information stored in the specific geometry of the chormophore to the surface of the molecule upon light absorption (2). In the active state, rhodopsin activates transduction, a GTP binding protein. Once activated, transduction promotes the hydrolysis of cGMP by phosphodiesterase. Rhodopsin's activity is believed to be shut off by its phosphorylation followed by binding of the soluble protein arrestin (4). Mutations in the rhodopsin gene lead to retinitis pigmentosa, which can be inherited as an autosomal dominant, an autosomal recessive or an X-linked recessive disorder (5).
Target Information: 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]