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KCNV2
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| KCNV2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | KCNV2, KV11.1, Kv8.2, RCD3B, potassium voltage-gated channel modifier subfamily V member 2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 607604; MGI: 2670981; HomoloGene: 26423; GeneCards: KCNV2; OMA:KCNV2 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Potassium voltage-gated channel subfamily V member 2 is a protein that in humans is encoded by the KCNV2 gene.[5][6] The protein encoded by this gene is a voltage-gated potassium channel subunit.[5][6]
KCNV2 retinopathy
[edit]KCNV2 retinopathy, historically referred to as cone dystrophy with supernormal rod electroretinogram, is a rare autosomal recessive inherited retinal dystrophy caused by biallelic pathogenic variants in the KCNV2 gene.[7] The condition typically presents in childhood with reduced visual acuity, photophobia, impaired color vision, and progressive central visual loss, while night vision may be relatively preserved in early stages.
A defining feature of the disorder is a characteristic full-field electroretinography profile. Scotopic responses may show disproportionately large b-wave amplitudes at higher stimulus intensities, whereas photopic responses are markedly delayed and reduced. This electrophysiological pattern is considered highly suggestive of KCNV2-associated retinopathy and may be present even when funduscopic or structural retinal changes are minimal.[8]
The KCNV2 gene encodes a modulatory subunit of voltage-gated potassium channels expressed in photoreceptors. Pathogenic variants are thought to disrupt normal photoreceptor signaling, resulting in combined cone dysfunction and abnormal rod responses. Additional descriptive electrophysiological and genetic case documentation has been made available through open research repositories.[9]
References
[edit]- ^ a b c GRCh38: Ensembl release 89: ENSG00000168263 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000047298 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b 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. Bibcode:2002PNAS...99.7986O. doi:10.1073/pnas.122617999. PMC 123007. PMID 12060745.
- ^ a b 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. S2CID 219195192.
- ^ Wu H, Cowing JA, Michaelides M, et al. Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause cone dystrophy with supernormal rod electroretinogram in humans. American Journal of Human Genetics. 2006;79(3):574–579. doi:10.1086/507568.
- ^ Wissinger B, Dangel S, Jägle H, et al. Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2. Investigative Ophthalmology & Visual Science. 2008;49(2):751–757. doi:10.1167/iovs.07-0471.
- ^ Lindamulage, Suneth Dayan. "Speaking Waves, Silent Genes: The Mystery of the Whispering Retina — Unraveling the ERG–WES Paradox in Cone Dystrophy with Supernormal Rod Response (CDSRR) - First clinically and electrophysiologically reported case of KCNV2 Retinopathy from Sri Lanka". Figshare. Retrieved 2026-01-30 – via DOI.
Further reading
[edit]- 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. S2CID 8716306.
- 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. doi:10.4161/chan.4946. 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. Bibcode:2002PNAS...9916899M. 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. S2CID 6288000.
- Humphray SJ, Oliver K, Hunt AR, et al. (2004). "DNA sequence and analysis of human chromosome 9". Nature. 429 (6990): 369–74. Bibcode:2004Natur.429..369H. 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
[edit]- Kv8.2+Potassium+Channel at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
- KCNV2+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
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