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Cyclic Nucleotide Gated Channel Beta 3 (CNGb3)

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ACHM3; Achromatopsia 3(Rod Monochromacy); Cone photoreceptor cGMP-gated channel subunit beta; Cyclic nucleotide-gated cation channel modulatory subunit

Cyclic Nucleotide Gated Channel Beta 3 (CNGb3)
CCC J433
HGNC 2153
MGI 1353562
PubMed 15657609
RGD 1565364
UniProt Q9NQW8
Wiki CNGB3
CNGb3 encodes the beta subunit of a cyclic nucleotide-gated ion channel. The encoded beta subunit appears to play a role in modulation of channel function in cone photoreceptors. This heterotetrameric channel is necessary for sensory transduction, and mutations in this gene have been associated with achromatopsia 3, progressive cone dystrophy, and juvenile macular degeneration, also known as Stargardt Disease.
The 2q11 achromatopsia (ACHM2) gene (CNGA3) encodes one of a family of alpha subunits that form cyclic nucleotide-gated ion channels required for sensory transduction in rod photoreceptors and in olfactory neurons. Each of these channels is an alpha-2/beta-2 heteromeric tetramer, implying that the cone terminal also contains a beta subunit.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Cyclic Nucleotide Gated Channel Beta 3 (CNGb3) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Cyclic Nucleotide Gated Channel Beta 3 (CNGb3) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Cyclic Nucleotide Gated Channel Beta 3 (CNGb3) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Cyclic Nucleotide Gated Channel Beta 3 (CNGb3) CLIA Kit Customized Service Offer
n/a ELISA Kit for Cyclic Nucleotide Gated Channel Beta 3 (CNGb3) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Cyclic Nucleotide Gated Channel Beta 3 (CNGb3) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Cyclic Nucleotide Gated Channel Beta 3 (CNGb3) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Cyclic Nucleotide Gated Channel Beta 3 (CNGb3) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Cyclic Nucleotide Gated Channel Beta 3 (CNGb3) CLIA Kit Customized Service Offer
n/a ELISA Kit for Cyclic Nucleotide Gated Channel Beta 3 (CNGb3) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Cyclic Nucleotide Gated Channel Beta 3 (CNGb3) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Cyclic Nucleotide Gated Channel Beta 3 (CNGb3) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Cyclic Nucleotide Gated Channel Beta 3 (CNGb3) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Cyclic Nucleotide Gated Channel Beta 3 (CNGb3) CLIA Kit Customized Service Offer
n/a ELISA Kit for Cyclic Nucleotide Gated Channel Beta 3 (CNGb3) ELISA Kit Customized Service Offer
  1. "Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8Q21."Hum. Mol. Genet. 9:2107-2116(2000) [PubMed] [Europe PMC] [Abstract]
  2. "DNA sequence and analysis of human chromosome 8." Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
  3. "Genetic basis of total colourblindness among the Pingelapese islanders."Nat. Genet. 25:289-293(2000) [PubMed] [Europe PMC] [Abstract]
  4. "Molecular mechanism for 3:1 subunit stoichiometry of rod cyclic nucleotide-gated ion channels."Nat. Commun. 2:457-457(2011) [PubMed] [Europe PMC] [Abstract]
  5. "A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate."Eur. J. Hum. Genet. 10:638-642(2002) [PubMed] [Europe PMC] [Abstract]
  6. "Achromatopsia caused by novel mutations in both CNGA3 and CNGB3."J. Med. Genet. 41:E20-E20(2004) [PubMed] [Europe PMC] [Abstract]
  7. "CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia." Eur. J. Hum. Genet. 13:302-308(2005) [PubMed] [Europe PMC] [Abstract]
  8. "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]