OPN1MW Chromosome X

Opsin 1, medium wave sensitive
6 variants 6 Health Risk

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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 green cone photopigment or medium-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. The long-wavelength opsin gene and multiple copies of 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 deutanopic colorblindness. [provided by RefSeq, Mar 2009]
Gene Info
Gene Group
Opsin receptors
Locus Type
gene with protein product
Location
Xq28
Ensembl
ENSG00000268221
Associated Conditions (5)
Cone monochromatism
Deuteranomaly
Achromatopsia
Cone dystrophy 5
X-linked
Key Variants
All Variants (6)
RSID Category Clinical Significance Conditions
RS104894914 Health Risk Pathogenic Cone monochromatism, Deuteranomaly, Cone monochromatism
RS104894915 Health Risk Pathogenic Deuteranomaly, Deuteranomaly
RS104894916 Health Risk Pathogenic Deuteranomaly, Deuteranomaly
RS2148787747 Health Risk Pathogenic Achromatopsia, Achromatopsia
RS267606927 Health Risk Pathogenic Cone dystrophy 5, X-linked, Cone dystrophy 5
RS724159983 Health Risk Pathogenic Deuteranomaly, Deuteranomaly
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