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],
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Function:
Disease:Defects in OPN1SW are the cause of tritan color blindness (tritanopia) [MIM:190900].,Function:Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal.,online information:Retina International's Scientific Newsletter,PTM:Phosphorylated on some or all of the serine and threonine residues present in the C-terminal region.,similarity:Belongs to the G-protein coupled receptor 1 family.,similarity:Belongs to the G-protein coupled receptor 1 family. Opsin subfamily.,tissue specificity:The three color pigments are found in the cone photoreceptor cells.,
The three color pigments are found in the cone photoreceptor cells (PubMed:2937147). Expressed throughout the epidermis and dermis, primarily in the stratum granulosum in the facial and abdominal skin (at protein level) (PubMed:30168605). Expressed in dermal fibroblasts (at protein level) (PubMed:31380578). Expressed in melanocytes (at protein level) (PubMed:31730232).