KCNV2: Difference between revisions
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*{{cite journal |vauthors=Wu H, Cowing JA, Michaelides M, etal |title=Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans. |journal=Am. J. Hum. Genet. |volume=79 |issue= 3 |pages= 574–9 |year= 2006 |pmid= 16909397 |doi= 10.1086/507568 |pmc=1559534 }} | *{{cite journal |vauthors=Wu H, Cowing JA, Michaelides M, etal |title=Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans. |journal=Am. J. Hum. Genet. |volume=79 |issue= 3 |pages= 574–9 |year= 2006 |pmid= 16909397 |doi= 10.1086/507568 |pmc=1559534 }} | ||
*{{cite journal |author1=Ben Salah S |author2=Kamei S |author3=Sénéćhal A |title=Novel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogram. |journal=Am. J. Ophthalmol. |volume=145 |issue= 6 |pages= 1099–106 |year= 2008 |pmid= 18400204 |doi= 10.1016/j.ajo.2008.02.004 |display-authors=etal}} | *{{cite journal |author1=Ben Salah S |author2=Kamei S |author3=Sénéćhal A |title=Novel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogram. |journal=Am. J. Ophthalmol. |volume=145 |issue= 6 |pages= 1099–106 |year= 2008 |pmid= 18400204 |doi= 10.1016/j.ajo.2008.02.004 |display-authors=etal|url=http://www.hal.inserm.fr/inserm-00259328/document }} | ||
*{{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 |pmc=528928 }} | *{{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 |pmc=528928 }} | ||
*{{cite journal |vauthors=Balijepalli RC, Delisle BP, Balijepalli SY, etal |title=Kv11.1 (ERG1) K+ channels localize in cholesterol and sphingolipid enriched membranes and are modulated by membrane cholesterol. |journal=Channels (Austin) |volume=1 |issue= 4 |pages= 263–72 |year= 2007|pmid= 18708743 |doi= }} | *{{cite journal |vauthors=Balijepalli RC, Delisle BP, Balijepalli SY, etal |title=Kv11.1 (ERG1) K+ channels localize in cholesterol and sphingolipid enriched membranes and are modulated by membrane cholesterol. |journal=Channels (Austin) |volume=1 |issue= 4 |pages= 263–72 |year= 2007|pmid= 18708743 |doi= }} | ||
Revision as of 13:03, 4 November 2018
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Potassium voltage-gated channel subfamily V member 2 is a protein that in humans is encoded by the KCNV2 gene.[1][2] The protein encoded by this gene is a voltage-gated potassium channel subunit.[1][2]{
References
- ↑ 1.0 1.1 Ottschytsch N, Raes A, Van Hoorick D, Snyders DJ (Jun 2002). "Obligatory heterotetramerization of three previously uncharacterized Kv channel alpha-subunits identified in the human genome". Proc Natl Acad Sci U S A. 99 (12): 7986–91. doi:10.1073/pnas.122617999. PMC 123007. PMID 12060745.
- ↑ 2.0 2.1 Gutman GA, Chandy KG, Grissmer S, Lazdunski M, McKinnon D, Pardo LA, Robertson GA, Rudy B, Sanguinetti MC, Stuhmer W, Wang X (Dec 2005). "International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels". Pharmacol Rev. 57 (4): 473–508. doi:10.1124/pr.57.4.10. PMID 16382104.
Further reading
- Wu H, Cowing JA, Michaelides M, et al. (2006). "Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans". Am. J. Hum. Genet. 79 (3): 574–9. doi:10.1086/507568. PMC 1559534. PMID 16909397.
- Ben Salah S; Kamei S; Sénéćhal A; et al. (2008). "Novel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogram". Am. J. Ophthalmol. 145 (6): 1099–106. doi:10.1016/j.ajo.2008.02.004. PMID 18400204.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Balijepalli RC, Delisle BP, Balijepalli SY, et al. (2007). "Kv11.1 (ERG1) K+ channels localize in cholesterol and sphingolipid enriched membranes and are modulated by membrane cholesterol". Channels (Austin). 1 (4): 263–72. PMID 18708743.
- Wistow G, Bernstein SL, Wyatt MK, et al. (2002). "Expressed sequence tag analysis of human retina for the NEIBank Project: retbindin, an abundant, novel retinal cDNA and alternative splicing of other retina-preferred gene transcripts". Mol. Vis. 8: 196–204. PMID 12107411.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Thiagalingam S, McGee TL, Weleber RG, et al. (2007). "Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram". Ophthalmic Genet. 28 (3): 135–42. doi:10.1080/13816810701503681. PMID 17896311.
- Humphray SJ, Oliver K, Hunt AR, et al. (2004). "DNA sequence and analysis of human chromosome 9". Nature. 429 (6990): 369–74. doi:10.1038/nature02465. PMC 2734081. PMID 15164053.
- Wissinger B, Dangel S, Jägle H, et al. (2008). "Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2". Invest. Ophthalmol. Vis. Sci. 49 (2): 751–7. doi:10.1167/iovs.07-0471. PMID 18235024.
External links
- Kv8.2+Potassium+Channel at the US National Library of Medicine Medical Subject Headings (MeSH)
- KCNV2+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
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