OPN1LW gene

opsin 1, long wave sensitive


The OPN1LW gene provides instructions for making an opsin pigment that is more sensitive to light in the yellow/orange part of the visible spectrum (long-wavelength light). Cones with this pigment are called long-wavelength-sensitive or L cones. In response to light, the photopigment triggers a series of chemical reactions within an L cone. 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 OPN1LW gene is located next to another opsin pigment gene, OPN1MW, on the X chromosome. The OPN1MW gene provides instructions for making a photopigment that is more sensitive to light at middle wavelengths (yellow/green light). Most people have one copy of the OPN1LW gene and one or more copies of the OPN1MW gene on each X chromosome. A nearby region of DNA, known as the locus control region (LCR), regulates the activity of these genes. Only the two opsin pigment genes nearest the LCR, generally the OPN1LW gene and the first copy of the OPN1MW gene, are active in the retina and contribute to color vision.

Several kinds of genetic changes involving the OPN1LW gene cause red-green color vision defects, a form of color vision deficiency that makes it difficult or impossible to distinguish between shades of red, yellow, and green. Most red-green color vision defects result from structural rearrangements involving the OPN1LW and OPN1MW genes. Because these genes are so similar, they occasionally swap genetic material when the genes are being passed from parent to child. This swapping, called recombination, can ultimately delete genetic material from one or both genes or lead to the formation of a hybrid pigment gene that contains part of the OPN1LW gene and part of the OPN1MW gene. Less commonly, red-green color defects can result from changes in single DNA building blocks (base pairs) in the OPN1LW gene.

When OPN1LW gene mutations lead to completely nonfunctional L cones, color vision depends entirely on the other two types of cones. The specific type of red-green color vision deficiency that results from a total loss of L cone function is called protanopia. A less severe red-green color vision defect called protanomaly occurs when a partially functional hybrid pigment gene replaces the normal OPN1LW gene. The photopigments made from these hybrid genes usually have abnormal visual properties that impair red-green color vision.

A common variation (polymorphism) in the OPN1LW gene accounts for subtle differences in normal color vision. This change alters a single protein building block (amino acid) in the resulting photopigment, replacing the amino acid serine with the amino acid alanine at position 180 (written as Ser180Ala). 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.



Molecular Location: base pairs 154,144,224 to 154,159,032 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

  • L-pigment
  • long-wave-sensitive pigment
  • opsin 1 (cone pigments), long-wave-sensitive
  • RCP
  • red cone photoreceptor pigment
  • red cone pigment
  • red-sensitive opsin