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Zhou, V. CACNA1F Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5052 (accessed on 22 September 2026).
Zhou V. CACNA1F Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5052. Accessed September 22, 2026.
Zhou, Vicky. "CACNA1F Gene" Encyclopedia, https://encyclopedia.pub/entry/5052 (accessed September 22, 2026).
Zhou, V. (2020, December 24). CACNA1F Gene. In Encyclopedia. https://encyclopedia.pub/entry/5052
Zhou, Vicky. "CACNA1F Gene." Encyclopedia. Web. 24 December, 2020.
CACNA1F Gene
Edit

calcium voltage-gated channel subunit alpha1 F

genes

References

  1. Bech-Hansen NT, Naylor MJ, Maybaum TA, Pearce WG, Koop B, Fishman GA, Mets M, Musarella MA, Boycott KM. Loss-of-function mutations in a calcium-channelalpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationarynight blindness. Nat Genet. 1998 Jul;19(3):264-7.
  2. Boycott KM, Maybaum TA, Naylor MJ, Weleber RG, Robitaille J, Miyake Y, Bergen AA, Pierpont ME, Pearce WG, Bech-Hansen NT. A summary of 20 CACNA1F mutationsidentified in 36 families with incomplete X-linked congenital stationary nightblindness, and characterization of splice variants. Hum Genet. 2001Feb;108(2):91-7.
  3. Doering CJ, Peloquin JB, McRory JE. The Ca(v)1.4 calcium channel: more thanmeets the eye. Channels (Austin). 2007 Jan-Feb;1(1):3-10.Review.
  4. Hemara-Wahanui A, Berjukow S, Hope CI, Dearden PK, Wu SB, Wilson-Wheeler J,Sharp DM, Lundon-Treweek P, Clover GM, Hoda JC, Striessnig J, Marksteiner R,Hering S, Maw MA. A CACNA1F mutation identified in an X-linked retinal disordershifts the voltage dependence of Cav1.4 channel activation. Proc Natl Acad Sci U S A. 2005 May 24;102(21):7553-8.
  5. Hoda JC, Zaghetto F, Koschak A, Striessnig J. Congenital stationary nightblindness type 2 mutations S229P, G369D, L1068P, and W1440X alter channel gating or functional expression of Ca(v)1.4 L-type Ca2+ channels. J Neurosci. 2005 Jan5;25(1):252-9.
  6. Hoda JC, Zaghetto F, Singh A, Koschak A, Striessnig J. Effects of congenitalstationary night blindness type 2 mutations R508Q and L1364H on Cav1.4 L-typeCa2+ channel function and expression. J Neurochem. 2006 Mar;96(6):1648-58.
  7. Hope CI, Sharp DM, Hemara-Wahanui A, Sissingh JI, Lundon P, Mitchell EA, MawMA, Clover GM. Clinical manifestations of a unique X-linked retinal disorder in alarge New Zealand family with a novel mutation in CACNA1F, the gene responsiblefor CSNB2. Clin Exp Ophthalmol. 2005 Apr;33(2):129-36.
  8. Jalkanen R, Bech-Hansen NT, Tobias R, Sankila EM, Mäntyjärvi M, Forsius H, de la Chapelle A, Alitalo T. A novel CACNA1F gene mutation causes Aland Island eyedisease. Invest Ophthalmol Vis Sci. 2007 Jun;48(6):2498-502.
  9. Jalkanen R, Mäntyjärvi M, Tobias R, Isosomppi J, Sankila EM, Alitalo T,Bech-Hansen NT. X linked cone-rod dystrophy, CORDX3, is caused by a mutation inthe CACNA1F gene. J Med Genet. 2006 Aug;43(8):699-704.
  10. McRory JE, Hamid J, Doering CJ, Garcia E, Parker R, Hamming K, Chen L,Hildebrand M, Beedle AM, Feldcamp L, Zamponi GW, Snutch TP. The CACNA1F geneencodes an L-type calcium channel with unique biophysical properties and tissuedistribution. J Neurosci. 2004 Feb 18;24(7):1707-18.
  11. Nakamura M, Ito S, Piao CH, Terasaki H, Miyake Y. Retinal and optic discatrophy associated with a CACNA1F mutation in a Japanese family. Arch Ophthalmol.2003 Jul;121(7):1028-33.
  12. Peloquin JB, Rehak R, Doering CJ, McRory JE. Functional analysis of congenitalstationary night blindness type-2 CACNA1F mutations F742C, G1007R, and R1049W.Neuroscience. 2007 Dec 5;150(2):335-45.
  13. Strom TM, Nyakatura G, Apfelstedt-Sylla E, Hellebrand H, Lorenz B, Weber BH,Wutz K, Gutwillinger N, Rüther K, Drescher B, Sauer C, Zrenner E, Meitinger T,Rosenthal A, Meindl A. An L-type calcium-channel gene mutated in incompleteX-linked congenital stationary night blindness. Nat Genet. 1998 Jul;19(3):260-3.
  14. Wutz K, Sauer C, Zrenner E, Lorenz B, Alitalo T, Broghammer M, Hergersberg M, de la Chapelle A, Weber BH, Wissinger B, Meindl A, Pusch CM. Thirty distinctCACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1fexpression profiling in mouse retina. Eur J Hum Genet. 2002 Aug;10(8):449-56.
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