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The official name of this gene is “cyclic nucleotide gated channel alpha 3.”
CNGA3 is the gene's official symbol. The CNGA3 gene is also known by other names, listed below.
The CNGA3 gene provides instructions for making a protein that forms part of an ion channel. Ion channels are openings in the cell membrane that transport electrically charged atoms (ions) into and out of cells. Specifically, the CNGA3 protein is part of a family of proteins that form cyclic nucleotide-gated (CNG) channels. CNG channels are involved in transmitting information about vision and smell from sensory cells to the brain.
The CNGA3 protein forms one part (the alpha subunit) of a CNG channel that is necessary for normal vision. These channels are present in light receptor cells called cones. As part of the light-sensitive tissue at the back of the eye (the retina), cones provide vision in bright light, including color vision. Other light receptor cells in the retina, called rods, are responsible for vision in low light.
In cones, CNG channels remain open under dark conditions. Positively charged ions can flow into the cell through these open channels. In response to light, these channels close to stop the inward flow of ions. This change in ion transport alters the cone cell's electrical charge, which generates a signal that the brain interprets as vision.
The CNGA3 gene belongs to a family of genes called CNG (cyclic nucleotide-regulated channels).
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.
More than 50 mutations in the CNGA3 gene have been identified in individuals with color vision deficiency. These mutations typically cause complete achromatopsia, which is a loss of all color vision. Most of the reported mutations change a single protein building block (an amino acid) in the CNGA3 protein, which changes the structure of CNG channels made with this protein. The altered CNG channels cannot regulate the flow of ions into cones. As a result, these light receptor cells are unable to transmit visual signals to the brain. A loss of normal cone function causes a lack of color vision, reduced sharpness, and other vision problems associated with complete achromatopsia.
A few mutations in the CNGA3 gene cause incomplete achromatopsia, a condition that causes impaired color vision. These mutations likely allow partial function of CNG channels in cones. The partially functional cones can transmit some visual information to the brain, causing a form of color vision deficiency that is usually milder than complete achromatopsia.
Cytogenetic Location: 2q11.2
Molecular Location on chromosome 2: base pairs 98,962,617 to 99,015,063
The CNGA3 gene is located on the long (q) arm of chromosome 2 at position 11.2.
More precisely, the CNGA3 gene is located from base pair 98,962,617 to base pair 99,015,063 on chromosome 2.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about CNGA3 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
achromatopsia ; amino acid ; cell ; cell membrane ; channel ; cone cell ; cones ; deficiency ; gene ; ions ; ion transport ; nucleotide ; photoreceptor ; protein ; receptor ; retina ; rods ; sensory cells ; subunit ; tissue
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
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.