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Reviewed January 2015
What is the official name of the GNAT2 gene?
The official name of this gene is “guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2.”
GNAT2 is the gene's official symbol. The GNAT2 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 GNAT2 gene?
The GNAT2 gene provides instructions for making one part (called the cone-specific alpha subunit) of a protein called transducin. This protein is found in light-detecting (photoreceptor) cells called cones, which are located in a specialized tissue at the back of the eye known as the retina. Cones provide vision in bright light (daylight vision), including color vision. Other photoreceptor cells, called rods, provide vision in low light (night vision).
Transducin plays an essential role in transmitting visual signals from photoreceptor cells in the retina to the brain through a process called phototransduction. Photoreceptors contain special pigments (called photopigments) that absorb light. The photopigments activate transducin, which triggers a series of chemical reactions within the cell. These reactions alter the cell's electrical charge, ultimately generating a signal that is interpreted by the brain as vision.
How are changes in the GNAT2 gene related to health conditions?
Where is the GNAT2 gene located?
Cytogenetic Location: 1p13.1
Molecular Location on chromosome 1: base pairs 109,603,266 to 109,613,082
The GNAT2 gene is located on the short (p) arm of chromosome 1 at position 13.1.
More precisely, the GNAT2 gene is located from base pair 109,603,266 to base pair 109,613,082 on chromosome 1.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about GNAT2?
You and your healthcare professional may find the following resources about GNAT2 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 GNAT2 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 GNAT2?
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.