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 (Cone Pigments), Short-Wave-Sensitive) is a Protein Coding gene. Diseases associated with OPN1SW include colorblindness, tritan and blue color blindness. Among its related pathways are Signaling by GPCR and Infectious disease. GO annotations related to this gene include G-protein coupled receptor activity and photoreceptor activity. An important paralog of this gene is OPN1LW.
UniProtKB/Swiss-Prot for OPN1SW Gene
Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal.