Biology:Cyclic nucleotide-gated channel alpha 3
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Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
Cyclic nucleotide-gated cation channel alpha-3 is a protein that in humans is encoded by the CNGA3 gene.[1][2][3][4]
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.[5] Missense mutations in this gene are associated with rod monochromacy and segregate in an autosomal recessive pattern.[5] Two alternatively-spliced transcripts encoding different isoforms have been described.[4]
Clinical relevance
Variants in this gene have been shown to cause achromatopsia[6] and colour blindness.
See also
- Cyclic nucleotide-gated ion channel
References
- ↑ "Expression of cyclic nucleotide-gated cation channels in non-sensory tissues and cells". Neuropharmacology 33 (11): 1275–82. November 1994. doi:10.1016/0028-3908(94)90027-2. PMID 7532814. https://epub.ub.uni-muenchen.de/3654/.
- ↑ "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. December 1997. doi:10.1111/j.1460-9568.1997.tb01680.x. PMID 9517456.
- ↑ "International Union of Pharmacology. LI. Nomenclature and structure-function relationships of cyclic nucleotide-regulated channels". Pharmacological Reviews 57 (4): 455–62. December 2005. doi:10.1124/pr.57.4.8. PMID 16382102.
- ↑ 4.0 4.1 "Entrez Gene: CNGA3 cyclic nucleotide gated channel alpha 3". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1261.
- ↑ 5.0 5.1 "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. July 1998. doi:10.1038/935. PMID 9662398.
- ↑ "Identification of variants in CNGA3 as cause for achromatopsia by exome sequencing of a single patient". Archives of Ophthalmology 129 (9): 1212–7. September 2011. doi:10.1001/archophthalmol.2011.254. PMID 21911670.
Further reading
- "Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling". Human Molecular Genetics 6 (5): 689–94. May 1997. doi:10.1093/hmg/6.5.689. PMID 9158143.
- "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. July 1998. doi:10.1038/935. PMID 9662398.
- "Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11". Genomics 51 (3): 325–31. August 1998. doi:10.1006/geno.1998.5390. PMID 9721202.
- "Genetic basis of total colourblindness among the Pingelapese islanders". Nature Genetics 25 (3): 289–93. July 2000. doi:10.1038/77162. PMID 10888875.
- "CNGA3 mutations in hereditary cone photoreceptor disorders". American Journal of Human Genetics 69 (4): 722–37. October 2001. doi:10.1086/323613. PMID 11536077.
- "The heteromeric cyclic nucleotide-gated channel adopts a 3A:1B stoichiometry". Nature 420 (6912): 193–8. November 2002. doi:10.1038/nature01201. PMID 12432397. Bibcode: 2002Natur.420..193Z.
- "Achromatopsia caused by novel mutations in both CNGA3 and CNGB3". Journal of Medical Genetics 41 (2): 20e–20. February 2004. doi:10.1136/jmg.2003.011437. PMID 14757870.
- "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. May 2004. doi:10.1074/jbc.M400035200. PMID 15024024.
- "Subunit configuration of heteromeric cone cyclic nucleotide-gated channels". Neuron 42 (3): 401–10. May 2004. doi:10.1016/S0896-6273(04)00225-9. PMID 15134637.
- "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. March 2005. doi:10.1002/humu.20142. PMID 15712225.
- "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. July 2005. doi:10.1152/ajpcell.00490.2004. PMID 15743887.
- "Clinical and genetic features of Hungarian achromatopsia patients". Molecular Vision 11: 996–1001. November 2005. PMID 16319819.
- "Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia". Visual Neuroscience 23 (3–4): 395–402. 2006. doi:10.1017/S095252380623308X. PMID 16961972.
External links
- GeneReviews/NIH/NCBI/UW entry on Achromatopsia
- OMIM entries on Achromatopsia
- CNGA3+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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