機能Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal.
組織特異性The three color pigments are found in the cone photoreceptor cells.
関連疾患Defects in OPN1MW are the cause of partial colorblindness deutan series (CBD) [MIM:303800]; also known as deuteranopia. Defects in OPN1MW are a cause of blue cone monochromacy (BCM) [MIM:303700]. 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. Defects in OPN1MW are a cause of cone dystrophy type 5 (COD5) [MIM:303700]. A X-linked cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs.
配列類似性Belongs to the G-protein coupled receptor 1 family. Opsin subfamily.
翻訳後修飾Phosphorylated on some or all of the serine and threonine residues present in the C-terminal region.