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OPN1LW

Chr Xq28

opsin 1, long wave sensitive

Aliases:
COD5
MANE:
ENST00000369951.9

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Retinal disorders

    X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

  • blue cone monochromacy

    0.62
  • red color blindness

    0.61
  • Blue cone monochromatism

    0.61
  • red-green color blindness

    0.47
  • Progressive cone dystrophy

    0.39
  • Cone rod dystrophy

    0.39
  • cone-rod dystrophy

    0.39
  • Rod-cone dystrophy

    0.39
  • retinitis pigmentosa

    0.10
  • open-angle glaucoma

    0.10

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Long-wave-sensitive opsin 1

G protein-coupled photoreceptor that selectively activates G(i) proteins in response to long-wavelength (red) light, thereby decreasing intracellular cAMP levels (PubMed:2937147, PubMed:6140680, Ref.5). Activation occurs when the opsin-bound cis-retinal chromophore absorbs a photon and isomerizes to all-trans-retinal, inducing a conformational change in the opsin that triggers a G protein-mediated phototransduction cascade (Ref.5). Mediates visual perception of red light in cone photoreceptor cells (PubMed:12051694, PubMed:8213841, PubMed:8666378)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.