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Cyclic nucleotide-gated channel alpha 3

From Wikipedia, the free encyclopedia

CNGA3
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCNGA3, ACHM2, CCNC1, CCNCa, CCNCalpha, CNCG3, CNG3, Cyclic nucleotide-gated channel alpha 3, cyclic nucleotide gated channel alpha 3, cyclic nucleotide gated channel subunit alpha 3
External IDsOMIM: 600053; MGI: 1341818; HomoloGene: 994; GeneCards: CNGA3; OMA:CNGA3 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001079878
NM_001298

NM_001282010
NM_009918

RefSeq (protein)

NP_001073347
NP_001289

NP_001268939
NP_034048

Location (UCSC)Chr 2: 98.35 – 98.4 MbChr 1: 37.25 – 37.3 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Cyclic nucleotide-gated cation channel alpha-3 is a protein that in humans is encoded by the CNGA3 gene.[5][6][7][8]

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Transcription

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. CNGA3 is expressed in cone photoreceptors and is necessary for color vision.[9] Missense mutations in this gene are associated with rod monochromacy and segregate in an autosomal recessive pattern.[9] Two alternatively-spliced transcripts encoding different isoforms have been described.[8]

Clinical relevance

Variants in this gene have been shown to cause achromatopsia[10] and colour blindness.

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000144191Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026114Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Distler M, Biel M, Flockerzi V, Hofmann F (November 1994). "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. S2CID 35784152.
  6. ^ Wissinger B, Müller F, Weyand I, Schuffenhauer S, Thanos S, Kaupp UB, Zrenner E (December 1997). "Cloning, chromosomal localization and functional expression of the gene encoding the alpha-subunit of the cGMP-gated channel in human cone photoreceptors". The European Journal of Neuroscience. 9 (12): 2512–21. doi:10.1111/j.1460-9568.1997.tb01680.x. PMID 9517456. S2CID 2839367.
  7. ^ Hofmann F, Biel M, Kaupp UB (December 2005). "International Union of Pharmacology. LI. Nomenclature and structure-function relationships of cyclic nucleotide-regulated channels". Pharmacological Reviews. 57 (4): 455–62. doi:10.1124/pr.57.4.8. PMID 16382102. S2CID 45853869.
  8. ^ a b "Entrez Gene: CNGA3 cyclic nucleotide gated channel alpha 3".
  9. ^ a b Kohl S, Marx T, Giddings I, Jägle H, Jacobson SG, Apfelstedt-Sylla E, et al. (July 1998). "Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel". Nature Genetics. 19 (3): 257–9. doi:10.1038/935. PMID 9662398. S2CID 12040233.
  10. ^ Lam K, Guo H, Wilson GA, Kohl S, Wong F (September 2011). "Identification of variants in CNGA3 as cause for achromatopsia by exome sequencing of a single patient". Archives of Ophthalmology. 129 (9): 1212–7. doi:10.1001/archophthalmol.2011.254. PMID 21911670. S2CID 36011909.

Further reading

External links

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

This page was last edited on 27 December 2023, at 16:44
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