≡

Cyclic Nucleotide Gated Channel Alpha 3 (CNGa3)

[Edit]

ACHM2; CCNC1; CCNCa; CCNCalpha; CNCG3; CNG3; Cyclic nucleotide-gated cation channel alpha-3; Cone photoreceptor cGMP-gated channel subunit alpha

Cyclic Nucleotide Gated Channel Alpha 3 (CNGa3)
CCC J430
HGNC 2150
MGI 1341818
PubMed 21901789
RGD 70948
UniProt Q16281
Wiki CNGa3
CNGa3 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.
The CNG1 channel is activated at 40-fold higher cGMP concentrations than the CNG2 channel. Its deduced amino acid sequence was found to be 60% and 62% identical with the CNG-channel proteins from bovine rod outer segment and bovine olfactory epithelium, respectively. Northern analysis and RT-PCR showed that the CNG3 mRNA is present in testis, kidney, and heart.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Cyclic Nucleotide Gated Channel Alpha 3 (CNGa3) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Cyclic Nucleotide Gated Channel Alpha 3 (CNGa3) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Cyclic Nucleotide Gated Channel Alpha 3 (CNGa3) Polyclonal Antibody Customized Service Offer
Assay Kits SEJ430Hu ELISA Kit for Cyclic Nucleotide Gated Channel Alpha 3 (CNGa3) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Cyclic Nucleotide Gated Channel Alpha 3 (CNGa3) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Cyclic Nucleotide Gated Channel Alpha 3 (CNGa3) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Cyclic Nucleotide Gated Channel Alpha 3 (CNGa3) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Cyclic Nucleotide Gated Channel Alpha 3 (CNGa3) CLIA Kit Customized Service Offer
n/a ELISA Kit for Cyclic Nucleotide Gated Channel Alpha 3 (CNGa3) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Cyclic Nucleotide Gated Channel Alpha 3 (CNGa3) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Cyclic Nucleotide Gated Channel Alpha 3 (CNGa3) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Cyclic Nucleotide Gated Channel Alpha 3 (CNGa3) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Cyclic Nucleotide Gated Channel Alpha 3 (CNGa3) CLIA Kit Customized Service Offer
n/a ELISA Kit for Cyclic Nucleotide Gated Channel Alpha 3 (CNGa3) ELISA Kit Customized Service Offer
  1. "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. 9:2512-2521(1997) [PubMed] [Europe PMC] [Abstract]
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  5. "Expression of cyclic nucleotide-gated cation channels in non-sensory tissues and cells."Neuropharmacology 33:1275-1282(1994) [PubMed] [Europe PMC] [Abstract]
  6. "Genetic basis of total colourblindness among the Pingelapese islanders."Nat. Genet. 25:289-293(2000) [PubMed] [Europe PMC] [Abstract]
  7. "Subunit configuration of heteromeric cone cyclic nucleotide-gated channels."Neuron 42:401-410(2004) [PubMed] [Europe PMC] [Abstract]
  8. "Molecular mechanism for 3:1 subunit stoichiometry of rod cyclic nucleotide-gated ion channels."Nat. Commun. 2:457-457(2011) [PubMed] [Europe PMC] [Abstract]
  9. "Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel."Nat. Genet. 19:257-259(1998) [PubMed] [Europe PMC] [Abstract]
  10. "CNGA3 mutations in hereditary cone photoreceptor disorders." Am. J. Hum. Genet. 69:722-737(2001) [PubMed] [Europe PMC] [Abstract]
  11. "Achromatopsia caused by novel mutations in both CNGA3 and CNGB3."J. Med. Genet. 41:E20-E20(2004) [PubMed] [Europe PMC] [Abstract]
  12. "Functional consequences of progressive cone dystrophy-associated mutations in the human cone photoreceptor cyclic nucleotide-gated channel CNGA3 subunit."Am. J. Physiol. 289:C187-C198(2005) [PubMed] [Europe PMC] [Abstract]
  13. "Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases."Hum. Mutat. 25:248-258(2005) [PubMed] [Europe PMC] [Abstract]
  14. "Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia."Hum. Mutat. 29:1228-1236(2008) [PubMed] [Europe PMC] [Abstract]
  15. "Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis."Hum. Mutat. 32:1450-1459(2011) [PubMed] [Europe PMC] [Abstract]
  16. "Diagnostic exome sequencing in persons with severe intellectual disability."N. Engl. J. Med. 367:1921-1929(2012) [PubMed] [Europe PMC] [Abstract]
  17. "Identification of CNGA3 mutations in 46 Families: common cause of achromatopsia and cone-rod dystrophies in Chinese patients."JAMA Ophthalmol. 132:1076-1083(2014) [PubMed] [Europe PMC] [Abstract]