Aliases for RHO Gene
External Ids for RHO Gene
Previous HGNC Symbols for RHO Gene
Previous GeneCards Identifiers for RHO Gene
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]
GeneCards Summary for RHO Gene
RHO (Rhodopsin) is a Protein Coding gene. Diseases associated with RHO include retinitis pigmentosa 4, autosomal dominant or recessive and night blindness, congenital stationary, autosomal dominant 1. Among its related pathways are Signaling by GPCR and Metabolism of fat-soluble vitamins. GO annotations related to this gene include G-protein coupled receptor activity and photoreceptor activity. An important paralog of this gene is OPN1SW.
UniProtKB/Swiss-Prot for RHO Gene
Photoreceptor required for image-forming vision at low light intensity. Required for photoreceptor cell viability after birth. Light-induced isomerization of 11-cis to all-trans retinal triggers a conformational change leading to G-protein activation and release of all-trans retinal.