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词条 Cyclic nucleotide gated channel beta 3
释义

  1. See also

  2. References

  3. Further reading

  4. External links

{{Infobox_gene}}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

References

1. ^{{cite web | title = Entrez Gene: CNGB3 cyclic nucleotide gated channel beta 3| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54714| accessdate = }}

Further reading

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

External links

  • [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=achm GeneReviews/NIH/NCBI/UW entry on Achromatopsia]
  • [https://www.ncbi.nlm.nih.gov/omim/216900,139340,216900,262300,600053,600827,605080,613093,139340,216900,262300,600053,600827,605080,613093 OMIM entries on Achromatopsia]
  • {{MeshName|CNGB3+protein,+human}}
{{NLM content}}{{Ion channels|g4}}{{membrane-protein-stub}}

1 : Ion channels
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