Cyclic nucleotide-gated cation channel alpha-3 is a
protein that in humans is encoded by the CNGA3gene.[5][6][7][8]
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.
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^Lam K, Guo H, Wilson GA, Kohl S, Wong F (September 2011). "Identification of variants in CNGA3 as cause for achromatopsia by exome sequencing of a single patient". Archives of Ophthalmology. 129 (9): 1212–7.
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Kohl S, Marx T, Giddings I, Jägle H, Jacobson SG, Apfelstedt-Sylla E, et al. (July 1998). "Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel". Nature Genetics. 19 (3): 257–9.
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10.1038/935.
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Sundin OH, Yang JM, Li Y, Zhu D, Hurd JN, Mitchell TN, et al. (July 2000). "Genetic basis of total colourblindness among the Pingelapese islanders". Nature Genetics. 25 (3): 289–93.
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Liu C, Varnum MD (July 2005). "Functional consequences of progressive cone dystrophy-associated mutations in the human cone photoreceptor cyclic nucleotide-gated channel CNGA3 subunit". American Journal of Physiology. Cell Physiology. 289 (1): C187-98.
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Varsányi B, Wissinger B, Kohl S, Koeppen K, Farkas A (November 2005). "Clinical and genetic features of Hungarian achromatopsia patients". Molecular Vision. 11: 996–1001.
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Goto-Omoto S, Hayashi T, Gekka T, Kubo A, Takeuchi T, Kitahara K (2006). "Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia". Visual Neuroscience. 23 (3–4): 395–402.
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