Biology:Cyclic nucleotide gated channel beta 3

Short description: Protein-coding gene in the species Homo sapiens

Generic protein structure example

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

See also

• Cyclic nucleotide-gated ion channel
• Stargardt disease

Further reading

• "International Union of Pharmacology. LI. Nomenclature and structure-function relationships of cyclic nucleotide-regulated channels.". Pharmacol. Rev. 57 (4): 455–62. 2006. doi:10.1124/pr.57.4.8. PMID 16382102. 
• "Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions.". Clin. Experiment. Ophthalmol. 35 (5): 473–85. 2007. doi:10.1111/j.1442-9071.2007.01534.x. PMID 17651254. 
• "Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy.". Am. J. Hum. Genet. 50 (4): 690–9. 1992. PMID 1347967. 
• "Homozygosity mapping of the Achromatopsia locus in the Pingelapese.". Am. J. Hum. Genet. 64 (6): 1679–85. 1999. doi:10.1086/302423. PMID 10330355. 
• "Genetic basis of total colourblindness among the Pingelapese islanders.". Nat. Genet. 25 (3): 289–93. 2000. doi:10.1038/77162. PMID 10888875. 
• "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. doi:10.1093/hmg/9.14.2107. PMID 10958649. 
• "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. doi:10.1074/jbc.M301699200. PMID 12730238. 
• "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. doi:10.1074/jbc.M305102200. PMID 12815043. 
• "Achromatopsia caused by novel mutations in both CNGA3 and CNGB3.". J. Med. Genet. 41 (2): 20e–20. 2004. doi:10.1136/jmg.2003.011437. PMID 14757870. 
• "Subunit configuration of heteromeric cone cyclic nucleotide-gated channels.". Neuron 42 (3): 401–10. 2004. doi:10.1016/S0896-6273(04)00225-9. PMID 15134637. 
• "Progressive cone dystrophy associated with mutation in CNGB3.". Invest. Ophthalmol. Vis. Sci. 45 (6): 1975–82. 2004. doi:10.1167/iovs.03-0898. PMID 15161866. 
• "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. doi:10.1167/iovs.03-1094. PMID 15223812. 
• "CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.". Eur. J. Hum. Genet. 13 (3): 302–8. 2005. doi:10.1038/sj.ejhg.5201269. PMID 15657609. 
• "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. doi:10.1002/humu.20142. PMID 15712225. 
• "Clinical and genetic features of Hungarian achromatopsia patients.". Mol. Vis. 11: 996–1001. 2006. PMID 16319819. 
• "Disease-associated mutations in CNGB3 produce gain of function alterations in cone cyclic nucleotide-gated channels.". Mol. Vis. 11: 1141–50. 2006. PMID 16379026. 
• "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. doi:10.1124/mol.106.026401. PMID 17018579. 
• "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. doi:10.1007/s00439-006-0314-y. PMID 17265047. 

External links

• GeneReviews/NIH/NCBI/UW entry on Achromatopsia
• OMIM entries on Achromatopsia
• CNGB3+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)

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