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Defective visual phototransduction due to OPN1MW loss of function
Summary
- Organism
- Homo sapiens (human)
- Reactome
- R-HSA-9918436
- PubChem
- R-HSA-9918436
- Description
-
- Normal human colour vision is trichromatic, based on 3 types of cones that are maximally sensitive to light at approximately 420 nm (blue cones), 530 nm (green cones), and 560 nm (red cones). Neural circuits compare light absorbed by these 3 cone types to perceive those primary colours and combinations of them. Colour vision deficiencies result from genetic mutations that affect the expression of the full complement of cone photoreceptors and are classified by severity of deficiency (see reviews Deeb 2005, Simunovic 2010).
Deutan colourblindness (DCB, deuteranopia, partial colorblindness, green colourblindness; MIM:303800) is caused by mutations in the OPN1MW gene which encodes green cones. In European populations, red-green colourblindness is prevelant in 8% of males and 0.5% of females. This frequency is lower in non-European populations (Deeb 2005).
Defects in OPN1MW also cause X-linked cone dystrophy type 5 (COD5; MIM:303700), a retinal dystrophy characterized by progressive degeneration of cone photoreceptors but with preserved rod function.
- Normal human colour vision is trichromatic, based on 3 types of cones that are maximally sensitive to light at approximately 420 nm (blue cones), 530 nm (green cones), and 560 nm (red cones). Neural circuits compare light absorbed by these 3 cone types to perceive those primary colours and combinations of them. Colour vision deficiencies result from genetic mutations that affect the expression of the full complement of cone photoreceptors and are classified by severity of deficiency (see reviews Deeb 2005, Simunovic 2010).
Click on a node on the pathway to see its details. Glycoproteins are marked with a glycoprotein icon in their name.
| UniProt ID | Protein Name | Gene Symbol | Pathway Viewer |
|---|---|---|---|
| P04001 | Medium-wave-sensitive opsin 1 |
|
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