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Open Access Articles- Top Results for Cyclic nucleotide gated channel beta 3

Cyclic nucleotide gated channel beta 3

Template:Infobox3cols/rowTemplate:Infobox3cols/rowTemplate:Infobox3cols/rowTemplate:Infobox3cols/row
Identifiers
SymbolsCNGB3 ; ACHM1
External IDsOMIM605080 MGI1353562 HomoloGene40908 IUPHAR: 399 GeneCards: CNGB3 Gene
RNA expression pattern
File:PBB GE CNGB3 220304 s at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez5471430952
EnsemblENSG00000170289ENSMUSG00000056494
UniProtQ9NQW8Q9JJZ9
RefSeq (mRNA)NM_019098NM_013927
RefSeq (protein)NP_061971NP_038955
Location (UCSC)Chr 8:
87.57 – 87.76 Mb
Chr 4:
19.28 – 19.51 Mb
PubMed search[1][2]

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


See also

References

Further reading

  • Hofmann F, Biel M, Kaupp UB (2006). "International Union of Pharmacology. LI. Nomenclature and structure-function relationships of cyclic nucleotide-regulated channels.". Pharmacol. Rev. 57 (4): 455–62. PMID 16382102. doi:10.1124/pr.57.4.8. 
  • Koenekoop RK, Lopez I, den Hollander AI et al. (2007). "Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions.". Clin. Experiment. Ophthalmol. 35 (5): 473–85. PMID 17651254. doi:10.1111/j.1442-9071.2007.01534.x. 
  • Pentao L, Lewis RA, Ledbetter DH et al. (1992). "Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy.". Am. J. Hum. Genet. 50 (4): 690–9. PMC 1682625. PMID 1347967. 
  • Winick JD, Blundell ML, Galke BL et al. (1999). "Homozygosity mapping of the Achromatopsia locus in the Pingelapese.". Am. J. Hum. Genet. 64 (6): 1679–85. PMC 1377911. PMID 10330355. doi:10.1086/302423. 
  • Sundin OH, Yang JM, Li Y et al. (2000). "Genetic basis of total colourblindness among the Pingelapese islanders.". Nat. Genet. 25 (3): 289–93. PMID 10888875. doi:10.1038/77162. 
  • Kohl S, Baumann B, Broghammer M et al. (2000). "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. PMID 10958649. doi:10.1093/hmg/9.14.2107. 
  • Peng C, Rich ED, Thor CA, Varnum MD (2003). "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. PMID 12730238. doi:10.1074/jbc.M301699200. 
  • Peng C, Rich ED, Varnum MD (2003). "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. PMID 12815043. doi:10.1074/jbc.M305102200. 
  • Johnson S, Michaelides M, Aligianis IA et al. (2004). "Achromatopsia caused by novel mutations in both CNGA3 and CNGB3.". J. Med. Genet. 41 (2): e20. PMC 1735666. PMID 14757870. doi:10.1136/jmg.2003.011437. 
  • Peng C, Rich ED, Varnum MD (2004). "Subunit configuration of heteromeric cone cyclic nucleotide-gated channels.". Neuron 42 (3): 401–10. PMID 15134637. doi:10.1016/S0896-6273(04)00225-9. 
  • Michaelides M, Aligianis IA, Ainsworth JR et al. (2004). "Progressive cone dystrophy associated with mutation in CNGB3.". Invest. Ophthalmol. Vis. Sci. 45 (6): 1975–82. PMID 15161866. doi:10.1167/iovs.03-0898. 
  • Okada A, Ueyama H, Toyoda F et al. (2004). "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. PMID 15223812. doi:10.1167/iovs.03-1094. 
  • Kohl S, Varsanyi B, Antunes GA et al. (2005). "CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.". Eur. J. Hum. Genet. 13 (3): 302–8. PMID 15657609. doi:10.1038/sj.ejhg.5201269. 
  • Nishiguchi KM, Sandberg MA, Gorji N et al. (2006). "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. PMID 15712225. doi:10.1002/humu.20142. 
  • Varsányi B, Wissinger B, Kohl S et al. (2006). "Clinical and genetic features of Hungarian achromatopsia patients.". Mol. Vis. 11: 996–1001. PMID 16319819. 
  • Bright SR, Brown TE, Varnum MD (2006). "Disease-associated mutations in CNGB3 produce gain of function alterations in cone cyclic nucleotide-gated channels.". Mol. Vis. 11: 1141–50. PMID 16379026. 
  • Bright SR, Rich ED, Varnum MD (2007). "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. PMID 17018579. doi:10.1124/mol.106.026401. 
  • Wiszniewski W, Lewis RA, Lupski JR (2007). "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. PMID 17265047. doi:10.1007/s00439-006-0314-y. 
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