Cyclic nucleotide-gated cation channel alpha-3 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...
that in humans is encoded by the ''CNGA3''
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
.
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.
Missense mutations in this gene are associated with rod monochromacy and segregate in an autosomal recessive pattern.
Two alternatively-spliced transcripts encoding different isoforms have been described.
Clinical relevance
Variants in this gene have been shown to cause
achromatopsia and colour blindness.
See also
*
Cyclic nucleotide-gated ion channel
Cycle, cycles, or cyclic may refer to:
Anthropology and social sciences
* Cyclic history, a theory of history
* Cyclical theory, a theory of American political history associated with Arthur Schlesinger, Sr.
* Social cycle, various cycles in soc ...
References
Further reading
*
*
*
*
*
*
*
*
*
*
*
*
*
External links
GeneReviews/NIH/NCBI/UW entry on Achromatopsia OMIM entries on Achromatopsia*
Ion channels
{{membrane-protein-stub