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Zhou, V. CACNA1D Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5035 (accessed on 22 September 2026).
Zhou V. CACNA1D Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5035. Accessed September 22, 2026.
Zhou, Vicky. "CACNA1D Gene" Encyclopedia, https://encyclopedia.pub/entry/5035 (accessed September 22, 2026).
Zhou, V. (2020, December 24). CACNA1D Gene. In Encyclopedia. https://encyclopedia.pub/entry/5035
Zhou, Vicky. "CACNA1D Gene." Encyclopedia. Web. 24 December, 2020.
CACNA1D Gene
Edit

calcium voltage-gated channel subunit alpha1 D

genes

References

  1. Azizan EA, Poulsen H, Tuluc P, Zhou J, Clausen MV, Lieb A, Maniero C, Garg S, Bochukova EG, Zhao W, Shaikh LH, Brighton CA, Teo AE, Davenport AP, Dekkers T,Tops B, Küsters B, Ceral J, Yeo GS, Neogi SG, McFarlane I, Rosenfeld N, Marass F,Hadfield J, Margas W, Chaggar K, Solar M, Deinum J, Dolphin AC, Farooqi IS,Striessnig J, Nissen P, Brown MJ. Somatic mutations in ATP1A1 and CACNA1Dunderlie a common subtype of adrenal hypertension. Nat Genet. 2013Sep;45(9):1055-60. doi: 10.1038/ng.2716.
  2. Baig SM, Koschak A, Lieb A, Gebhart M, Dafinger C, Nürnberg G, Ali A, Ahmad I,Sinnegger-Brauns MJ, Brandt N, Engel J, Mangoni ME, Farooq M, Khan HU, NürnbergP, Striessnig J, Bolz HJ. Loss of Ca(v)1.3 (CACNA1D) function in a humanchannelopathy with bradycardia and congenital deafness. Nat Neurosci. 2011Jan;14(1):77-84. doi: 10.1038/nn.2694.
  3. Pinggera A, Mackenroth L, Rump A, Schallner J, Beleggia F, Wollnik B,Striessnig J. New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy. Hum Mol Genet. 2017 Aug1;26(15):2923-2932. doi: 10.1093/hmg/ddx175.
  4. Scholl UI, Goh G, Stölting G, de Oliveira RC, Choi M, Overton JD, Fonseca AL, Korah R, Starker LF, Kunstman JW, Prasad ML, Hartung EA, Mauras N, Benson MR,Brady T, Shapiro JR, Loring E, Nelson-Williams C, Libutti SK, Mane S, Hellman P, Westin G, Åkerström G, Björklund P, Carling T, Fahlke C, Hidalgo P, Lifton RP.Somatic and germline CACNA1D calcium channel mutations in aldosterone-producingadenomas and primary aldosteronism. Nat Genet. 2013 Sep;45(9):1050-4. doi:10.1038/ng.2695.
  5. Striessnig J, Pinggera A, Kaur G, Bock G, Tuluc P. L-type Ca(2+) channels inheart and brain. Wiley Interdiscip Rev Membr Transp Signal. 2014 Mar1;3(2):15-38.
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Update Date: 24 Dec 2020
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