Aliases for OPN1SW Gene
External Ids for OPN1SW Gene
Previous HGNC Symbols for OPN1SW Gene
Previous GeneCards Identifiers for OPN1SW Gene
This gene belongs to the G-protein coupled receptor 1 family, opsin subfamily. It encodes the blue cone pigment gene which is one of three types of cone photoreceptors responsible for normal color vision. Defects in this gene are the cause of tritan color blindness (tritanopia). Affected individuals lack blue and yellow sensory mechanisms while retaining those for red and green. Defective blue vision is characteristic. [provided by RefSeq, Jul 2008]
GeneCards Summary for OPN1SW Gene
OPN1SW (Opsin 1, Short Wave Sensitive) is a Protein Coding gene. Diseases associated with OPN1SW include Tritanopia and Color Blindness. Among its related pathways are Signaling by GPCR and Metabolism of fat-soluble vitamins. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and photoreceptor activity. An important paralog of this gene is RHO.
UniProtKB/Swiss-Prot Summary for OPN1SW Gene
Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal (Probable). Required for the maintenance of cone outer segment organization in the ventral retina, but not essential for the maintenance of functioning cone photoreceptors (By similarity). Involved in ensuring correct abundance and localization of retinal membrane proteins (By similarity). May increase spectral sensitivity in dim light (By similarity).