Cyclic nucleotide-gated channel alpha 3
Cyclic nucleotide-gated cation channel alpha-3 is a protein that in humans is encoded by the CNGA3 gene.[3][4][5][6]
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. Two alternatively-spliced transcripts encoding different isoforms have been described.[6]
Clinical relevance
Variants in this gene have been shown to cause achromatopsia[7] and colour blindness.
See also
References
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- ↑ Distler M, Biel M, Flockerzi V, Hofmann F (Mar 1995). "Expression of cyclic nucleotide-gated cation channels in non-sensory tissues and cells". Neuropharmacology. 33 (11): 1275–82. PMID 7532814. doi:10.1016/0028-3908(94)90027-2.
- ↑ Wissinger B, Muller F, Weyand I, Schuffenhauer S, Thanos S, Kaupp UB, Zrenner E (Apr 1998). "Cloning, chromosomal localization and functional expression of the gene encoding the alpha-subunit of the cGMP-gated channel in human cone photoreceptors". Eur J Neurosci. 9 (12): 2512–21. PMID 9517456. doi:10.1111/j.1460-9568.1997.tb01680.x.
- ↑ Hofmann F, Biel M, Kaupp UB (Dec 2005). "International Union of Pharmacology. LI. Nomenclature and structure-function relationships of cyclic nucleotide-regulated channels". Pharmacol Rev. 57 (4): 455–62. PMID 16382102. doi:10.1124/pr.57.4.8.
- 1 2 "Entrez Gene: CNGA3 cyclic nucleotide gated channel alpha 3".
- ↑ Lam K, Guo H, Wilson GA, Kohl S, Wong F (2011). "Identification of variants in CNGA3 as cause for achromatopsia by exome sequencing of a single patient". Arch. Ophthalmol. 129 (9): 1212–7. PMID 21911670. doi:10.1001/archophthalmol.2011.254.
Further reading
- Arbour NC, Zlotogora J, Knowlton RG, et al. (1997). "Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling.". Hum. Mol. Genet. 6 (5): 689–94. PMID 9158143. doi:10.1093/hmg/6.5.689.
- Kohl S, Marx T, Giddings I, et al. (1998). "Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.". Nat. Genet. 19 (3): 257–9. PMID 9662398. doi:10.1038/935.
- Wissinger B, Jägle H, Kohl S, et al. (1998). "Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11.". Genomics. 51 (3): 325–31. PMID 9721202. doi:10.1006/geno.1998.5390.
- Sundin OH, Yang JM, Li Y, et al. (2000). "Genetic basis of total colourblindness among the Pingelapese islanders.". Nat. Genet. 25 (3): 289–93. PMID 10888875. doi:10.1038/77162.
- Wissinger B, Gamer D, Jägle H, et al. (2001). "CNGA3 mutations in hereditary cone photoreceptor disorders.". Am. J. Hum. Genet. 69 (4): 722–37. PMC 1226059
. PMID 11536077. doi:10.1086/323613. - Zhong H, Molday LL, Molday RS, Yau KW (2002). "The heteromeric cyclic nucleotide-gated channel adopts a 3A:1B stoichiometry.". Nature. 420 (6912): 193–8. PMC 2877395 . PMID 12432397. doi:10.1038/nature01201.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. PMC 139241 . PMID 12477932. doi:10.1073/pnas.242603899.
- Johnson S, Michaelides M, Aligianis IA, et al. (2004). "Achromatopsia caused by novel mutations in both CNGA3 and CNGB3.". J. Med. Genet. 41 (2): e20. PMC 1735666 . PMID 14757870. doi:10.1136/jmg.2003.011437.
- Faillace MP, Bernabeu RO, Korenbrot JI (2004). "Cellular processing of cone photoreceptor cyclic GMP-gated ion channels: a role for the S4 structural motif.". J. Biol. Chem. 279 (21): 22643–53. PMID 15024024. doi:10.1074/jbc.M400035200.
- Peng C, Rich ED, Varnum MD (2004). "Subunit configuration of heteromeric cone cyclic nucleotide-gated channels.". Neuron. 42 (3): 401–10. PMID 15134637. doi:10.1016/S0896-6273(04)00225-9.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. PMC 528928 . PMID 15489334. doi:10.1101/gr.2596504.
- Nishiguchi KM, Sandberg MA, Gorji N, et al. (2006). "Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.". Hum. Mutat. 25 (3): 248–58. PMID 15712225. doi:10.1002/humu.20142.
- Liu C, Varnum MD (2005). "Functional consequences of progressive cone dystrophy-associated mutations in the human cone photoreceptor cyclic nucleotide-gated channel CNGA3 subunit.". Am. J. Physiol., Cell Physiol. 289 (1): C187–98. PMID 15743887. doi:10.1152/ajpcell.00490.2004.
- Hillier LW, Graves TA, Fulton RS, et al. (2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4.". Nature. 434 (7034): 724–31. PMID 15815621. doi:10.1038/nature03466.
- Varsányi B, Wissinger B, Kohl S, et al. (2006). "Clinical and genetic features of Hungarian achromatopsia patients.". Mol. Vis. 11: 996–1001. PMID 16319819.
- Goto-Omoto S, Hayashi T, Gekka T, et al. (2006). "Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia.". Vis. Neurosci. 23 (3–4): 395–402. PMID 16961972. doi:10.1017/S095252380623308X.
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)
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