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Reviewed March 2006
What is the official name of the CNGB3 gene?
The official name of this gene is “cyclic nucleotide gated channel beta 3.”
CNGB3 is the gene's official symbol. The CNGB3 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the CNGB3 gene?
The CNGB3 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 CNGB3 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 CNGB3 protein forms one part (the beta 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.
How are changes in the CNGB3 gene related to health conditions?
Where is the CNGB3 gene located?
Cytogenetic Location: 8q21.3
Molecular Location on chromosome 8: base pairs 87,586,162 to 87,755,902
The CNGB3 gene is located on the long (q) arm of chromosome 8 at position 21.3.
More precisely, the CNGB3 gene is located from base pair 87,586,162 to base pair 87,755,902 on chromosome 8.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about CNGB3?
You and your healthcare professional may find the following resources about CNGB3 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 CNGB3 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding CNGB3?
achromatopsia ; amino acid ; base pair ; cation ; cell ; cell membrane ; channel ; cone cell ; cones ; deficiency ; DNA ; gene ; ions ; ion transport ; mutation ; nucleotide ; phenylalanine ; photoreceptor ; protein ; receptor ; retina ; rods ; sensory cells ; serine ; subunit ; tissue
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (8 links)
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? in the Handbook.