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Open Access Articles- Top Results for Cyclic nucleotide-gated channel alpha 3

Cyclic nucleotide-gated channel alpha 3

Template:Infobox3cols/rowTemplate:Infobox3cols/rowTemplate:Infobox3cols/rowTemplate:Infobox3cols/row
Identifiers
SymbolsCNGA3 ; ACHM2; CCNC1; CCNCa; CCNCalpha; CNCG3; CNG3
External IDsOMIM600053 MGI1341818 HomoloGene994 IUPHAR: 396 ChEMBL: 1628463 GeneCards: CNGA3 Gene
RNA expression pattern
File:PBB GE CNGA3 207261 at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez126112790
EnsemblENSG00000144191ENSMUSG00000026114
UniProtQ16281Q9JJZ8
RefSeq (mRNA)NM_001079878NM_001282010
RefSeq (protein)NP_001073347NP_001268939
Location (UCSC)Chr 2:
98.96 – 99.02 Mb
Chr 1:
37.22 – 37.26 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]

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.[4]

Clinical relevance

Variants in this gene have been shown to cause achromatopsia[5] and colour blindness.

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. doi:10.1016/0028-3908(94)90027-2. 
  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. 
  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. PMID 16382102. doi:10.1124/pr.57.4.8. 
  4. ^ a b "Entrez Gene: CNGA3 cyclic nucleotide gated channel alpha 3". 
  5. ^ 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

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External links

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


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