This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called green cone photopigment or medium-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a SLCterminal cytoplasmic domain. The long-wavelength opsin gene and multiple copies of the medium-wavelength opsin gene are tandemly arrayed on the X chromosome and frequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusions of the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene are the cause of deutanopic colorblindness. [provided by RefSeq, Mar 2009]
Function:
Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal.
Subcellular Location:
Membrane.
Tissue Specificity:
The three color pigments are found in the cone photoreceptor cells.
Post-translational modifications:
Phosphorylated on some or all of the serine and threonine residues present in the SLCterminal region.
DISEASE:
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.
Similarity:
Belongs to the G-protein coupled receptor 1 family. Opsin subfamily.
SWISS:
P04001
Gene ID:
2652
Database links:
Entrez Gene: 2652 Human
Entrez Gene: 728458 Human
Entrez Gene: 14539 Mouse
Entrez Gene: 89810 Rat
Omim: 300821 Human
Omim: 303800 Human
SwissProt: P04001 Human
SwissProt: O35599 Mouse
SwissProt: O35476 Rat
Unigene: 247787 Human
Unigene: 571751 Human
Unigene: 284825 Mouse
Unigene: 81056 Rat
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