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Defective visual phototransduction due to OPN1SW loss of function
Summary
- Organism
- Homo sapiens (human)
- Reactome
- R-HSA-9918443
- PubChem
- R-HSA-9918443
- 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).
Tritan (blue-yellow, blue colourblindness, tritanopia; MIM:190900) deficiencies are rare (1 in 500) (Went & Pronk 1985) compared to those involving green- and red-cone deficiencies. The first report of tritan defects was in 1952 (Wright 1952). Tritan deficiencies are inherited as autosomal dominant traits (Kalmus 1955) and are a result of missense mutations in the blue-cone photopigment gene OPN1SW, leading to amino-acid substitutions in the protein sequence. Tritan defects are characterized by a selective deficiency of blue spectral sensitivity (Weitz et al. 1992).
- 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 |
|---|---|---|---|
| P03999 | Short-wave-sensitive opsin 1 |
|
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