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.
Pathway
Class A/1 (Rhodopsin-like receptors); Disease; Diseases associated with visual transduction; G alpha (i) signalling events; GPCR downstream signaling; GPCR ligand binding; GPCRs, Class A Rhodopsin-like; Opsins; Retinoid cycle disease events; Signal Transduction; Signaling by GPCR;
Citations
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