Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal. Defects in OPN1LW are the cause of partial colorblindness protan series (CBP); also known as protanopia. Defects in OPN1LW are a cause of blue cone monochromacy (BCM). A rare X-linked congenital stationary cone dysfunction syndrome characterized by the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina. Color discrimination is severely impaired from birth, and vision is derived from the remaining preserved blue (S) cones and rod photoreceptors. BCM typically presents with reduced visual acuity, pendular nystagmus, and photophobia. Patients often have myopia. Belongs to the G-protein coupled receptor 1 family. Opsin subfamily. Note: This description may include information from UniProtKB.
Protein type: GPCR, family 1; Membrane protein, multi-pass; Receptor, GPCR; Membrane protein, integral