Cyclic nucleotide-gated channel alpha 3
Template:Cs1 config Template:Short description Template:Infobox gene Cyclic nucleotide-gated cation channel alpha-3 is a protein that in humans is encoded by the CNGA3 gene.[1][2][3][4]
Function
This gene encodes a member of the cyclic nucleotide-gated cation channel protein family, which is required for normal vision and olfactory signal transduction. CNGA3 is expressed in cone photoreceptors and is necessary for color vision.[5] Missense mutations in this gene are associated with rod monochromacy and segregate in an autosomal recessive pattern.[5] Two alternatively-spliced transcripts encoding different isoforms have been described.[4]
Clinical relevance
Variants in this gene have been shown to cause achromatopsia[6] and colour blindness.
See also
References
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Further reading
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External links
- GeneReviews/NIH/NCBI/UW entry on Achromatopsia
- OMIM entries on Achromatopsia
- Template:Replace at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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