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Genetics Home Reference: your guide to understanding genetic conditions
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OPN1LW

Reviewed March 2006

What is the official name of the OPN1LW gene?

The official name of this gene is “opsin 1 (cone pigments), long-wave-sensitive.”

OPN1LW is the gene's official symbol. The OPN1LW gene is also known by other names, listed below.

What is the normal function of the OPN1LW gene?

The OPN1LW gene provides instructions for making a protein that is essential for normal color vision. This gene is active in the retina, a light-sensitive tissue at the back of the eye. The retina contains two types of light receptor cells called rods and cones. Rods are responsible for vision in low light. Cones provide vision in bright light, including color vision. Three types of cones each contain a special pigment (a photopigment) that is most sensitive to a particular wavelength of light.

The OPN1LW gene produces a photopigment that is more sensitive to light at the red end of the visible spectrum. Cones with this pigment are usually called long-wavelength-sensitive or L cones. In response to light at long wavelengths, the photopigment triggers a series of chemical reactions within an L cone cell. These reactions ultimately alter the cell's electrical charge, generating a signal that is transmitted to the brain. The brain combines input from all three types of cones to produce normal color vision.

The long-wavelength-sensitive pigment gene (OPN1LW) and the middle-wavelength-sensitive pigment gene (OPN1MW) are very similar and are located close together on the X chromosome. Most people have one copy of the OPN1LW gene and one or more copies of the OPN1MW gene. A nearby region of DNA, known as the locus control region (LCR), regulates the activity of these genes. Only the two pigment genes nearest the LCR are active in the retina.

Does the OPN1LW gene share characteristics with other genes?

The OPN1LW gene belongs to a family of genes called GPCR (G protein-coupled receptors).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the OPN1LW gene related to health conditions?

color vision deficiency - caused by mutations in the OPN1LW gene

Genetic changes involving the OPN1LW gene cause a form of color vision deficiency that makes it difficult or impossible to distinguish between shades of red and green. Most red-green color vision defects result from structural rearrangements of the OPN1LW and OPN1MW genes. Some affected individuals have a hybrid pigment gene on the X chromosome instead of, or in addition to, separate copies of these genes. This hybrid gene contains part of the OPN1LW gene and part of the OPN1MW gene. It typically has abnormal visual properties that affect red-green color vision.

When L cones are completely nonfunctional, the specific type of red-green color vision deficiency that results is called protanopia. A less severe red-green color vision defect called protanomaly occurs when a hybrid pigment gene replaces the normal OPN1LW gene.

A condition called blue cone monochromacy occurs when genetic changes prevent both long- and middle-wavelength-sensitive photopigments from functioning normally. People with this condition have only cones with short-wave-sensitive photopigment (S cones). Because the brain must compare input from at least two types of cones to detect color, people who have only functional S cones have very poor color vision. Blue cone monochromacy can be caused by a deletion of the LCR, which normally controls the activity of the OPN1LW and OPN1MW genes. A loss of the LCR prevents these genes from producing any photopigments. This condition can also result from mutations in pigment genes that inactivate both the long- and middle-wavelength-sensitive photopigments.

A common variation (polymorphism) in either the OPN1LW or OPN1MW gene accounts for subtle differences in normal color vision. This change replaces the amino acid serine with the amino acid alanine at position 180 (written as Ser180Ala) in the resulting photopigment. Researchers suggest that the Ser180Ala polymorphism also plays a role in determining the severity of color vision loss in people with red-green color vision defects.

Where is the OPN1LW gene located?

Cytogenetic Location: Xq28

Molecular Location on the X chromosome: base pairs 154,144,223 to 154,159,031

The OPN1LW gene is located on the long (q) arm of the X chromosome at position 28.

The OPN1LW gene is located on the long (q) arm of the X chromosome at position 28.

More precisely, the OPN1LW gene is located from base pair 154,144,223 to base pair 154,159,031 on the X chromosome.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about OPN1LW?

You and your healthcare professional may find the following resources about OPN1LW helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the OPN1LW gene or gene products?

  • CBP
  • Long-wave-sensitive pigment
  • L-pigment
  • OPSR_HUMAN
  • RCP
  • Red cone photoreceptor pigment
  • red cone pigment
  • Red-sensitive opsin

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding OPN1LW?

alanine ; amino acid ; cell ; chromosome ; cone cell ; cones ; deficiency ; deletion ; DNA ; gene ; locus ; photopigment ; photoreceptor ; pigment ; polymorphism ; protein ; receptor ; retina ; rods ; serine ; spectrum ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Deeb SS. Molecular genetics of color-vision deficiencies. Vis Neurosci. 2004 May-Jun;21(3):191-6. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15518188?dopt=Abstract)
  • Deeb SS. The molecular basis of variation in human color vision. Clin Genet. 2005 May;67(5):369-77. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15811001?dopt=Abstract)
  • Michaelides M, Hunt DM, Moore AT. The cone dysfunction syndromes. Br J Ophthalmol. 2004 Feb;88(2):291-7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14736794?dopt=Abstract)
  • Nathans J. The evolution and physiology of human color vision: insights from molecular genetic studies of visual pigments. Neuron. 1999 Oct;24(2):299-312. Review. (http://www.ncbi.nlm.nih.gov/pubmed/10571225?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/5956)
  • Ueyama H, Kuwayama S, Imai H, Tanabe S, Oda S, Nishida Y, Wada A, Shichida Y, Yamade S. Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies. Biochem Biophys Res Commun. 2002 Jun 7;294(2):205-9. (http://www.ncbi.nlm.nih.gov/pubmed/12051694?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: March 2006
Published: November 24, 2014