KCNV2 explained

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.

Further reading

• Wu H, Cowing JA, Michaelides M, etal . 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 . 2006 . 16909397 . 10.1086/507568 . 1559534 .
• Ben Salah S . Kamei S . Sénéćhal A . Novel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogram. . Am. J. Ophthalmol. . 145 . 6 . 1099–106 . 2008 . 18400204 . 10.1016/j.ajo.2008.02.004 . 8716306 . etal.
• Gerhard DS, Wagner L, Feingold EA, etal . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
• Balijepalli RC, Delisle BP, Balijepalli SY, etal . Kv11.1 (ERG1) K+ channels localize in cholesterol and sphingolipid enriched membranes and are modulated by membrane cholesterol. . Channels (Austin) . 1 . 4 . 263–72 . 2007. 18708743 . 10.4161/chan.4946. free .
• Wistow G, Bernstein SL, Wyatt MK, etal . 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 . 2002 . 12107411 .
• Strausberg RL, Feingold EA, Grouse LH, etal . 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 . 2002 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Thiagalingam S, McGee TL, Weleber RG, etal . Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram. . Ophthalmic Genet. . 28 . 3 . 135–42 . 2007 . 17896311 . 10.1080/13816810701503681 . 6288000 .
• Humphray SJ, Oliver K, Hunt AR, etal . DNA sequence and analysis of human chromosome 9. . Nature . 429 . 6990 . 369–74 . 2004 . 15164053 . 10.1038/nature02465 . 2734081 . 2004Natur.429..369H .
• Wissinger B, Dangel S, Jägle H, etal . Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2. . Invest. Ophthalmol. Vis. Sci. . 49 . 2 . 751–7 . 2008 . 18235024 . 10.1167/iovs.07-0471 . free .

Notes and References

1. Ottschytsch N, Raes A, Van Hoorick D, Snyders DJ . 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 . Jun 2002 . 12060745 . 123007 . 10.1073/pnas.122617999 . 2002PNAS...99.7986O . free .
2. Gutman GA, Chandy KG, Grissmer S, Lazdunski M, McKinnon D, Pardo LA, Robertson GA, Rudy B, Sanguinetti MC, Stuhmer W, Wang X . International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels . Pharmacol Rev . 57 . 4 . 473–508 . Dec 2005 . 16382104 . 10.1124/pr.57.4.10 . 219195192 .