Cyclic nucleotide gated channel beta 3 explained

Cyclic nucleotide gated channel beta 3, also known as CNGB3, is a human gene encoding an ion channel protein.^[1]

See also

• Cyclic nucleotide-gated ion channel
• Stargardt disease

Further reading

• Hofmann F, Biel M, Kaupp UB . International Union of Pharmacology. LI. Nomenclature and structure-function relationships of cyclic nucleotide-regulated channels. . Pharmacol. Rev. . 57 . 4 . 455–62 . 2006 . 16382102 . 10.1124/pr.57.4.8 . 45853869 .
• Koenekoop RK, Lopez I, den Hollander AI . Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions. . Clin. Experiment. Ophthalmol. . 35 . 5 . 473–85 . 2007 . 17651254 . 10.1111/j.1442-9071.2007.01534.x . 37487873 . etal.
• Pentao L, Lewis RA, Ledbetter DH . Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy. . Am. J. Hum. Genet. . 50 . 4 . 690–9 . 1992 . 1347967 . 1682625 . etal.
• Winick JD, Blundell ML, Galke BL . Homozygosity mapping of the Achromatopsia locus in the Pingelapese. . Am. J. Hum. Genet. . 64 . 6 . 1679–85 . 1999 . 10330355 . 10.1086/302423 . 1377911 . etal.
• Sundin OH, Yang JM, Li Y . Genetic basis of total colourblindness among the Pingelapese islanders. . Nat. Genet. . 25 . 3 . 289–93 . 2000 . 10888875 . 10.1038/77162 . 22948732 . etal.
• Kohl S, Baumann B, Broghammer M . 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 . 14 . 2107–16 . 2000 . 10958649 . 10.1093/hmg/9.14.2107 . etal. free .
• Peng C, Rich ED, Thor CA, Varnum MD . Functionally important calmodulin-binding sites in both NH2- and COOH-terminal regions of the cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit. . J. Biol. Chem. . 278 . 27 . 24617–23 . 2003 . 12730238 . 10.1074/jbc.M301699200 . free .
• Peng C, Rich ED, Varnum MD . Achromatopsia-associated mutation in the human cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit alters the ligand sensitivity and pore properties of heteromeric channels. . J. Biol. Chem. . 278 . 36 . 34533–40 . 2003 . 12815043 . 10.1074/jbc.M305102200 . free .
• Johnson S, Michaelides M, Aligianis IA . Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. . J. Med. Genet. . 41 . 2 . 20e–20 . 2004 . 14757870 . 10.1136/jmg.2003.011437 . 1735666 . etal.
• Peng C, Rich ED, Varnum MD . Subunit configuration of heteromeric cone cyclic nucleotide-gated channels. . Neuron . 42 . 3 . 401–10 . 2004 . 15134637 . 10.1016/S0896-6273(04)00225-9 . 16989789 . free .
• Michaelides M, Aligianis IA, Ainsworth JR . Progressive cone dystrophy associated with mutation in CNGB3. . Invest. Ophthalmol. Vis. Sci. . 45 . 6 . 1975–82 . 2004 . 15161866 . 10.1167/iovs.03-0898 . etal. free .
• Okada A, Ueyama H, Toyoda F . Functional role of hCngb3 in regulation of human cone cng channel: effect of rod monochromacy-associated mutations in hCNGB3 on channel function. . Invest. Ophthalmol. Vis. Sci. . 45 . 7 . 2324–32 . 2004 . 15223812 . 10.1167/iovs.03-1094 . etal. free .
• Kohl S, Varsanyi B, Antunes GA . CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. . Eur. J. Hum. Genet. . 13 . 3 . 302–8 . 2005 . 15657609 . 10.1038/sj.ejhg.5201269 . etal. free .
• Nishiguchi KM, Sandberg MA, Gorji N . Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. . Hum. Mutat. . 25 . 3 . 248–58 . 2006 . 15712225 . 10.1002/humu.20142 . 10889075 . etal. free .
• Varsányi B, Wissinger B, Kohl S . Clinical and genetic features of Hungarian achromatopsia patients. . Mol. Vis. . 11 . 996–1001 . 2006 . 16319819 . etal.
• Bright SR, Brown TE, Varnum MD . Disease-associated mutations in CNGB3 produce gain of function alterations in cone cyclic nucleotide-gated channels. . Mol. Vis. . 11 . 1141–50 . 2006 . 16379026 .
• Bright SR, Rich ED, Varnum MD . Regulation of human cone cyclic nucleotide-gated channels by endogenous phospholipids and exogenously applied phosphatidylinositol 3,4,5-trisphosphate. . Mol. Pharmacol. . 71 . 1 . 176–83 . 2007 . 17018579 . 10.1124/mol.106.026401 . 25496962 .
• Wiszniewski W, Lewis RA, Lupski JR . Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14. . Hum. Genet. . 121 . 3–4 . 433–9 . 2007 . 17265047 . 10.1007/s00439-006-0314-y . 7955648 .

External links

• GeneReviews/NIH/NCBI/UW entry on Achromatopsia
• OMIM entries on Achromatopsia

Notes and References

1. Web site: Entrez Gene: CNGB3 cyclic nucleotide gated channel beta 3.