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.
^Wissinger B, Müller F, Weyand I, Schuffenhauer S, Thanos S, Kaupp UB, Zrenner E (December 1997). "Cloning, chromosomal localization and functional expression of the gene encoding the alpha-subunit of the cGMP-gated channel in human cone photoreceptors". The European Journal of Neuroscience. 9 (12): 2512–21. doi:10.1111/j.1460-9568.1997.tb01680.x. PMID9517456. S2CID2839367.
^Hofmann F, Biel M, Kaupp UB (December 2005). "International Union of Pharmacology. LI. Nomenclature and structure-function relationships of cyclic nucleotide-regulated channels". Pharmacological Reviews. 57 (4): 455–62. doi:10.1124/pr.57.4.8. PMID16382102. S2CID45853869.
^ abKohl 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. doi:10.1038/935. PMID9662398. S2CID12040233.
^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. doi:10.1001/archophthalmol.2011.254. PMID21911670. S2CID36011909.
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. doi:10.1038/935. PMID9662398. S2CID12040233.
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. doi:10.1038/77162. PMID10888875. S2CID22948732.
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. doi:10.1152/ajpcell.00490.2004. PMID15743887.
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. PMID16319819.
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. doi:10.1017/S095252380623308X. PMID16961972. S2CID22582346.
