[{"@context":"http:\/\/schema.org\/","@type":"BlogPosting","@id":"https:\/\/wiki.edu.vn\/en\/wiki24\/cyclic-nucleotide-gated-channel-alpha-3\/#BlogPosting","mainEntityOfPage":"https:\/\/wiki.edu.vn\/en\/wiki24\/cyclic-nucleotide-gated-channel-alpha-3\/","headline":"Cyclic nucleotide-gated channel alpha 3","name":"Cyclic nucleotide-gated channel alpha 3","description":"From Wikipedia, the free encyclopedia Protein-coding gene in the species Homo sapiens Cyclic nucleotide-gated cation channel alpha-3 is a protein","datePublished":"2016-09-16","dateModified":"2016-09-16","author":{"@type":"Person","@id":"https:\/\/wiki.edu.vn\/en\/wiki24\/author\/lordneo\/#Person","name":"lordneo","url":"https:\/\/wiki.edu.vn\/en\/wiki24\/author\/lordneo\/","image":{"@type":"ImageObject","@id":"https:\/\/secure.gravatar.com\/avatar\/c9645c498c9701c88b89b8537773dd7c?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/c9645c498c9701c88b89b8537773dd7c?s=96&d=mm&r=g","height":96,"width":96}},"publisher":{"@type":"Organization","name":"Enzyklop\u00e4die","logo":{"@type":"ImageObject","@id":"https:\/\/wiki.edu.vn\/wiki4\/wp-content\/uploads\/2023\/08\/download.jpg","url":"https:\/\/wiki.edu.vn\/wiki4\/wp-content\/uploads\/2023\/08\/download.jpg","width":600,"height":60}},"image":{"@type":"ImageObject","@id":"https:\/\/en.wikipedia.org\/wiki\/Special:CentralAutoLogin\/start?type=1x1","url":"https:\/\/en.wikipedia.org\/wiki\/Special:CentralAutoLogin\/start?type=1x1","height":"1","width":"1"},"url":"https:\/\/wiki.edu.vn\/en\/wiki24\/cyclic-nucleotide-gated-channel-alpha-3\/","wordCount":5370,"articleBody":"From Wikipedia, the free encyclopediaProtein-coding gene in the species Homo sapiensCyclic nucleotide-gated cation channel alpha-3 is a protein that in humans is encoded by the CNGA3 gene.[5][6][7][8]Table of ContentsFunction[edit]Clinical relevance[edit]See also[edit]References[edit]Further reading[edit]External links[edit]Function[edit]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[edit]Variants in this gene have been shown to cause achromatopsia[10] and colour blindness.See also[edit]References[edit]^ a b c GRCh38: Ensembl release 89: ENSG00000144191 – Ensembl, May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026114 – Ensembl, May 2017^ “Human PubMed Reference:”. National Center for Biotechnology Information, U.S. National Library of Medicine.^ “Mouse PubMed Reference:”. National Center for Biotechnology Information, U.S. National Library of Medicine.^ Distler M, Biel M, Flockerzi V, Hofmann F (November 1994). “Expression of cyclic nucleotide-gated cation channels in non-sensory tissues and cells”. Neuropharmacology. 33 (11): 1275\u201382. doi:10.1016\/0028-3908(94)90027-2. PMID\u00a07532814. S2CID\u00a035784152.^ Wissinger B, M\u00fcller 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\u201321. doi:10.1111\/j.1460-9568.1997.tb01680.x. PMID\u00a09517456. S2CID\u00a02839367.^ 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\u201362. doi:10.1124\/pr.57.4.8. PMID\u00a016382102. S2CID\u00a045853869.^ a b “Entrez Gene: CNGA3 cyclic nucleotide gated channel alpha 3”.^ a b Kohl S, Marx T, Giddings I, J\u00e4gle H, Jacobson SG, Apfelstedt-Sylla E,  et\u00a0al. (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\u20139. doi:10.1038\/935. PMID\u00a09662398. S2CID\u00a012040233.^ 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\u20137. doi:10.1001\/archophthalmol.2011.254. PMID\u00a021911670.Further reading[edit]Arbour NC, Zlotogora J, Knowlton RG, Merin S, Rosenmann A, Kanis AB,  et\u00a0al. (May 1997). “Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling”. Human Molecular Genetics. 6 (5): 689\u201394. doi:10.1093\/hmg\/6.5.689. PMID\u00a09158143.Kohl S, Marx T, Giddings I, J\u00e4gle H, Jacobson SG, Apfelstedt-Sylla E,  et\u00a0al. (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\u20139. doi:10.1038\/935. PMID\u00a09662398. S2CID\u00a012040233.Wissinger B, J\u00e4gle H, Kohl S, Broghammer M, Baumann B, Hanna DB,  et\u00a0al. (August 1998). “Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11”. Genomics. 51 (3): 325\u201331. doi:10.1006\/geno.1998.5390. PMID\u00a09721202.Sundin OH, Yang JM, Li Y, Zhu D, Hurd JN, Mitchell TN,  et\u00a0al. (July 2000). “Genetic basis of total colourblindness among the Pingelapese islanders”. Nature Genetics. 25 (3): 289\u201393. doi:10.1038\/77162. PMID\u00a010888875. S2CID\u00a022948732.Wissinger B, Gamer D, J\u00e4gle H, Giorda R, Marx T, Mayer S,  et\u00a0al. (October 2001). “CNGA3 mutations in hereditary cone photoreceptor disorders”. American Journal of Human Genetics. 69 (4): 722\u201337. doi:10.1086\/323613. PMC\u00a01226059. PMID\u00a011536077.Zhong H, Molday LL, Molday RS, Yau KW (November 2002). “The heteromeric cyclic nucleotide-gated channel adopts a 3A:1B stoichiometry”. Nature. 420 (6912): 193\u20138. Bibcode:2002Natur.420..193Z. doi:10.1038\/nature01201. PMC\u00a02877395. PMID\u00a012432397.Johnson S, Michaelides M, Aligianis IA, Ainsworth JR, Mollon JD, Maher ER,  et\u00a0al. (February 2004). “Achromatopsia caused by novel mutations in both CNGA3 and CNGB3”. Journal of Medical Genetics. 41 (2): 20e\u201320. doi:10.1136\/jmg.2003.011437. PMC\u00a01735666. PMID\u00a014757870.Faillace MP, Bernabeu RO, Korenbrot JI (May 2004). “Cellular processing of cone photoreceptor cyclic GMP-gated ion channels: a role for the S4 structural motif”. The Journal of Biological Chemistry. 279 (21): 22643\u201353. doi:10.1074\/jbc.M400035200. PMID\u00a015024024.Peng C, Rich ED, Varnum MD (May 2004). “Subunit configuration of heteromeric cone cyclic nucleotide-gated channels”. Neuron. 42 (3): 401\u201310. doi:10.1016\/S0896-6273(04)00225-9. PMID\u00a015134637. S2CID\u00a016989789.Nishiguchi KM, Sandberg MA, Gorji N, Berson EL, Dryja TP (March 2005). “Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases”. Human Mutation. 25 (3): 248\u201358. doi:10.1002\/humu.20142. PMID\u00a015712225. S2CID\u00a010889075.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. PMID\u00a015743887.Vars\u00e1nyi B, Wissinger B, Kohl S, Koeppen K, Farkas A (November 2005). “Clinical and genetic features of Hungarian achromatopsia patients”. Molecular Vision. 11: 996\u20131001. PMID\u00a016319819.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\u20134): 395\u2013402. doi:10.1017\/S095252380623308X. PMID\u00a016961972. S2CID\u00a022582346.External links[edit]This article incorporates text from the United States National Library of Medicine, which is in the public domain.  "},{"@context":"http:\/\/schema.org\/","@type":"BreadcrumbList","itemListElement":[{"@type":"ListItem","position":1,"item":{"@id":"https:\/\/wiki.edu.vn\/en\/wiki24\/#breadcrumbitem","name":"Enzyklop\u00e4die"}},{"@type":"ListItem","position":2,"item":{"@id":"https:\/\/wiki.edu.vn\/en\/wiki24\/cyclic-nucleotide-gated-channel-alpha-3\/#breadcrumbitem","name":"Cyclic nucleotide-gated channel alpha 3"}}]}]