| 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 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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]
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.
See also
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000144191 - Ensembl, May 2017
- 1 2 3 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): 1275–82. doi:10.1016/0028-3908(94)90027-2. PMID 7532814. S2CID 35784152.
- ↑ 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. PMID 9517456. S2CID 2839367.
- ↑ 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. PMID 16382102. S2CID 45853869.
- 1 2 "Entrez Gene: CNGA3 cyclic nucleotide gated channel alpha 3".
- 1 2 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. PMID 9662398. S2CID 12040233.
- ↑ 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. PMID 21911670. S2CID 36011909.
Further reading
- Arbour NC, Zlotogora J, Knowlton RG, Merin S, Rosenmann A, Kanis AB, et al. (May 1997). "Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling". Human Molecular Genetics. 6 (5): 689–94. doi:10.1093/hmg/6.5.689. PMID 9158143.
- 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. PMID 9662398. S2CID 12040233.
- Wissinger B, Jägle H, Kohl S, Broghammer M, Baumann B, Hanna DB, et al. (August 1998). "Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11". Genomics. 51 (3): 325–31. doi:10.1006/geno.1998.5390. PMID 9721202.
- 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. PMID 10888875. S2CID 22948732.
- Wissinger B, Gamer D, Jägle H, Giorda R, Marx T, Mayer S, et al. (October 2001). "CNGA3 mutations in hereditary cone photoreceptor disorders". American Journal of Human Genetics. 69 (4): 722–37. doi:10.1086/323613. PMC 1226059. PMID 11536077.
- Zhong H, Molday LL, Molday RS, Yau KW (November 2002). "The heteromeric cyclic nucleotide-gated channel adopts a 3A:1B stoichiometry". Nature. 420 (6912): 193–8. Bibcode:2002Natur.420..193Z. doi:10.1038/nature01201. PMC 2877395. PMID 12432397.
- Johnson S, Michaelides M, Aligianis IA, Ainsworth JR, Mollon JD, Maher ER, et al. (February 2004). "Achromatopsia caused by novel mutations in both CNGA3 and CNGB3". Journal of Medical Genetics. 41 (2): 20e–20. doi:10.1136/jmg.2003.011437. PMC 1735666. PMID 14757870.
- 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): 22643–53. doi:10.1074/jbc.M400035200. PMID 15024024.
- Peng C, Rich ED, Varnum MD (May 2004). "Subunit configuration of heteromeric cone cyclic nucleotide-gated channels". Neuron. 42 (3): 401–10. doi:10.1016/S0896-6273(04)00225-9. PMID 15134637. S2CID 16989789.
- 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): 248–58. doi:10.1002/humu.20142. PMID 15712225. S2CID 10889075.
- 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 15743887.
- 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. PMID 16319819.
- 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. PMID 16961972. S2CID 22582346.
External links
- GeneReviews/NIH/NCBI/UW entry on Achromatopsia
- OMIM entries on Achromatopsia
- CNGA3+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
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