Recombinant Human Short-wave-sensitive opsin 1 (OPN1SW)

1. LVAVA haplotype of the OPN1LW gene and MVAVA haplotype of the OPN1MW gene cause apparently nonsyndromic high myopia in young patients but lead to progressive cone-rod dystrophy with deuteranopia and protanopia in middle-aged patients corresponding to a previously unknown disease course. PMID:28358949
2. Data suggest that insights into dimerization interface of red cone opsin should aid investigations of the structure and function of GPCR cell signaling. PMID:28045251
3. A novel homozygous PDE6C mutation was identified as the cause of ACHM. In addition, we identified an OPN1SW mutation in the sibling with complete achromatopsia. PMID:25605338
4. Individuals with the T190I S-opsin mutation behaved as mild tritans at 12.3-92.3Td, but as tritanopes at 1.2-9.2Td, for both light-adapted and dark-adapted conditions. The results are consistent with the mutant opsin causing abnormal S-cone function. PMID:23022137
5. A novel mutation(prolin/leucine) in the short-wavelength-sensitive cone pigment gene associated with a tritan color vision defect. PMID:16961973
6. Results show that, although light absorption behaves differently in blue, green and red opsins, their low-frequency vibrational motions are similar. PMID:19189139
7. 11-cis-retinol had no significant effect on the activity of human blue cone opsin PMID:19386593
8. Immunoreactivity to anti-OPN1SW antibodies was seen in the upper layer of human epidermis & reconstructed skin. The opsin mRNA was seen in total RNA from human skin. Neither immunoreactivity nor mRNA expression was seen in cultured human keratinocytes. PMID:19493002

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HGNC: 1012

UNIGENE: Hs.656404

KEGG: hsa:611

STRING: 9606.ENSP00000249389

OMIM: 190900