OPN1LW Chromosome X
Opsin 1, long wave sensitive
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What This Gene Does
This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called red cone photopigment or long-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. This gene and the medium-wavelength opsin gene are tandemly arrayed on the X chromosome and frequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusions of the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene are the cause of partial, protanopic colorblindness. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Opsin receptors
Locus Type
gene with protein product
Location
Xq28
Ensembl
ENSG00000102076
Associated Conditions (2)
Protan defect
Cone monochromatism
Key Variants
RS2522587785
Likely pathogenic
Protan defect, Protan defect
Health Risk
RS104894912
Pathogenic
Cone monochromatism, Cone monochromatism
Health Risk
RS104894913
Pathogenic
Protan defect, Protan defect
Health Risk
RS121434621
Pathogenic
Cone monochromatism, Protan defect, Cone monochromatism
Health Risk
RS2067071714
Pathogenic
Cone monochromatism, Cone monochromatism
Health Risk
RS2067072148
Pathogenic
Health Risk
RS782711582
Pathogenic
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2522587785 | Health Risk | Likely pathogenic | Protan defect, Protan defect |
| RS104894912 | Health Risk | Pathogenic | Cone monochromatism, Cone monochromatism |
| RS104894913 | Health Risk | Pathogenic | Protan defect, Protan defect |
| RS121434621 | Health Risk | Pathogenic | Cone monochromatism, Protan defect, Cone monochromatism |
| RS2067071714 | Health Risk | Pathogenic | Cone monochromatism, Cone monochromatism |
| RS2067072148 | Health Risk | Pathogenic | — |
| RS782711582 | Health Risk | Pathogenic | — |