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Reviewed August 2010
What is the official name of the GUCY2D gene?
The official name of this gene is “guanylate cyclase 2D, membrane (retina-specific).”
GUCY2D is the gene's official symbol. The GUCY2D 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 GUCY2D gene?
The GUCY2D gene provides instructions for making a protein that plays an essential role in normal vision. This protein is found in the retina, which is the specialized tissue at the back of the eye that detects light and color. Within the retina, the GUCY2D protein is located in light-detecting cells called photoreceptors. The retina contains two types of photoreceptor cells: rods and cones. Rods are needed for vision in low light, while cones are needed for vision in bright light, including color vision.
The GUCY2D protein is involved in a process called phototransduction. When light enters the eye, it stimulates specialized pigments in photoreceptor cells. This stimulation triggers a series of chemical reactions that produce an electrical signal, which is interpreted by the brain as vision. Once photoreceptors have been stimulated by light, they must return to their resting (or "dark") state before they can be stimulated again. The GUCY2D protein is responsible for a chemical reaction that helps return photoreceptors to their dark state after light exposure.
How are changes in the GUCY2D gene related to health conditions?
Where is the GUCY2D gene located?
Cytogenetic Location: 17p13.1
Molecular Location on chromosome 17: base pairs 8,002,669 to 8,020,339
The GUCY2D gene is located on the short (p) arm of chromosome 17 at position 13.1.
More precisely, the GUCY2D gene is located from base pair 8,002,669 to base pair 8,020,339 on chromosome 17.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about GUCY2D?
You and your healthcare professional may find the following resources about GUCY2D 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 GUCY2D 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 GUCY2D?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (11 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.