Cyclic nucleotide-gated channel alpha 3
Encyclopedia
Cyclic nucleotide-gated cation channel alpha-3 is a protein
that in humans is encoded by the CNGA3 gene
.
and color blindness.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that in humans is encoded by the CNGA3 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
Clinical relevance
Variants in this gene have been shown to cause achromatopsiaAchromatopsia
Achromatopsia , is a medical syndrome that exhibits symptoms relating to at least five separate individual disorders. Although the term may refer to acquired disorders such as color agnosia and cerebral achromatopsia, it typically refers to an autosomal recessive congenital color vision disorder,...
and color blindness.