Cyclic nucleotide-gated channel alpha 3
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
Cyclic nucleotide-gated cation channel alpha-3 is a protein that in humans is encoded by the CNGA3 gene.[5][6][7][8]
AliasesCNGA3, 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 IDsOMIM: 600053; MGI: 1341818; HomoloGene: 994; GeneCards: CNGA3; OMA:CNGA3 - orthologs
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| 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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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.[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]
Clinical relevance
Variants in this gene have been shown to cause achromatopsia[10] and colour blindness.
