CNGA3 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | CNGA3 , ACHM2, CCNC1, CCNCa, CCNCalpha, CNCG3, CNG3, Cyclic nucleotide-gated channel alpha 3, cyclic nucleotide gated channel alpha 3, cyclic nucleotide gated channel subunit alpha 3 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 600053; MGI: 1341818; HomoloGene: 994; GeneCards: CNGA3; OMA:CNGA3 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Cyclic nucleotide-gated cation channel alpha-3 is a protein that in humans is encoded by the CNGA3 gene. [5] [6] [7] [8]
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. [9] Missense mutations in this gene are associated with rod monochromacy and segregate in an autosomal recessive pattern. [9] Two alternatively-spliced transcripts encoding different isoforms have been described. [8]
Variants in this gene have been shown to cause achromatopsia [10] and colour blindness.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.