Cyclic nucleotide-gated channel alpha 3

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
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View/Edit Human

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. 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. 4.0 4.1 "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

External links

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



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