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Cyclic nucleotide-gated channel alpha 3
Identifiers
Symbols CNGA3; ACHM2; CCNC1; CCNCa; CCNCalpha; CNCG3; CNG3
External IDs OMIM600053 MGI1341818 HomoloGene994 IUPHAR: CNGA3 GeneCards: CNGA3 Gene
RNA expression pattern
PBB GE CNGA3 207261 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1261 12790
Ensembl ENSG00000144191 ENSMUSG00000026114
UniProt Q16281 Q8CFV6
RefSeq (mRNA) NM_001079878 XM_986103
RefSeq (protein) NP_001073347 XP_991197
Location (UCSC) Chr 2:
98.35 - 98.38 Mb
Chr 1:
37.16 - 37.21 Mb
PubMed search [1] [2]

Cyclic nucleotide-gated cation channel alpha-3 is a protein that in humans is encoded by the CNGA3 gene.[1][2][3][4]

This gene encodes a member of the cyclic nucleotide-gated cation channel protein family, which is required for normal vision and olfactory signal transduction. Mutations in this gene are associated with achromatopsia (rod monochromacy) and color blindness. Two alternatively-spliced transcripts encoding different isoforms have been described.[4]

Contents

See also

References

  1. ^ 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.  
  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.  
  3. ^ 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. doi:10.1124/pr.57.4.8. PMID 16382102.  
  4. ^ a b "Entrez Gene: CNGA3 cyclic nucleotide gated channel alpha 3". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1261.  

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. doi:10.1093/hmg/6.5.689. PMID 9158143.  
  • 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. doi:10.1038/935. PMID 9662398.  
  • 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. doi:10.1006/geno.1998.5390. PMID 9721202.  
  • Sundin OH, Yang JM, Li Y, et al. (2000). "Genetic basis of total colourblindness among the Pingelapese islanders.". Nat. Genet. 25 (3): 289–93. doi:10.1038/77162. PMID 10888875.  
  • Wissinger B, Gamer D, Jägle H, et al. (2001). "CNGA3 mutations in hereditary cone photoreceptor disorders.". Am. J. Hum. Genet. 69 (4): 722–37. doi:10.1086/323613. PMID 11536077.  
  • 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. doi:10.1038/nature01201. PMID 12432397.  
  • 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. doi:10.1073/pnas.242603899. PMID 12477932.  
  • 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. doi:10.1136/jmg.2003.011437. PMID 14757870.  
  • 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. doi:10.1074/jbc.M400035200. PMID 15024024.  
  • Peng C, Rich ED, Varnum MD (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.  
  • 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. doi:10.1101/gr.2596504. PMID 15489334.  
  • 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. doi:10.1002/humu.20142. PMID 15712225.  
  • 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. doi:10.1152/ajpcell.00490.2004. PMID 15743887.  
  • 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. doi:10.1038/nature03466. PMID 15815621.  
  • 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. doi:10.1017/S095252380623308X. PMID 16961972.  

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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