This web page was produced as an assignment for Genetics 564, an undergraduate course at the University of Wisconsin-Madison.
CNGA-3 Gene
The CNGA-3 gene has over 98 million base pairs in its sequence and is located on the long arm of the 2nd chromosome at the 11.2 position (as shown on the diagram above). This gene is part of the CNG family, genes that are involved in vision and sense of smell. There are over 50 known mutations in this gene that cause Achromatopsia. The majority of these mutations were found to be missense [1]. It is a protein encoding gene that produces the CNGA3 protein and mutations found in this gene are associated with Achromatopsia. For more information on the function of the protein that this gene encodes for see the protein page.