Cyclic nucleotide-gated channel alpha 3

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Cyclic nucleotide gated channel alpha 3
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols CNGA3 ; ACHM2; CCNC1; CCNCa; CCNCalpha; CNCG3; CNG3
External IDs OMIM600053 MGI1341818 HomoloGene994 IUPHAR: CNGA3 ChEMBL: 1628463 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 Q9JJZ8
RefSeq (mRNA) NM_001079878 NM_001282010
RefSeq (protein) NP_001073347 NP_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[edit]

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[edit]

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

See also[edit]

References[edit]

  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. doi:10.1016/0028-3908(94)90027-2. 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. doi:10.1111/j.1460-9568.1997.tb01680.x. 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". 
  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. doi:10.1001/archophthalmol.2011.254. PMID 21911670. 

Further reading[edit]

External links[edit]

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