calcium voltage-gated channel subunit alpha1 D
Última actualización 13 Mar 2023
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El CACNA1D gene belongs to a family of genes that provide instructions for making calcium channels. These channels transport positively charged calcium atoms (calcium ions) across cell membranes. The CACNA1D gene provides instructions for making one part (the alpha-1 subunit) of a calcium channel called CaV1.3. This subunit forms the hole (pore) through which calcium ions can flow. CaV1.3 channels are found in many types of cells, although they play a particularly important role in the adrenal glands, which are small hormone-producing glands located on top of each kidney. In the adrenal glands, the flow of calcium through CaV1.3 channels appears to help regulate the production of the hormone aldosterone, which helps control blood pressure by maintaining proper salt and fluid levels in the body. CaV1.3 channels are also found in the brain, heart, and inner ear, although their roles in these tissues are not well understood.
Normal function
El CACNA1D gene belongs to a family of genes that provide instructions for making calcium channels. These channels transport positively charged calcium atoms (calcium ions) across cell membranes. The CACNA1D gene provides instructions for making one part (the alpha-1 subunit) of a calcium channel called CaV1.3. This subunit forms the hole (pore) through which calcium ions can flow. CaV1.3 channels are found in many types of cells, although they play a particularly important role in the adrenal glands, which are small hormone-producing glands located on top of each kidney. In the adrenal glands, the flow of calcium through CaV1.3 channels appears to help regulate the production of the hormone aldosterone, which helps control blood pressure by maintaining proper salt and fluid levels in the body. CaV1.3 channels are also found in the brain, heart, and inner ear, although their roles in these tissues are not well understood.
Conditions referring to this gene or chromosome
Otros nombres
CACH3
CACN4
CACNL1A2
calcium channel, neuroendocrine/brain-type, alpha 1 subunit
calcium channel, voltage-dependent, L type, alpha 1D subunit
Cav1.3
CCHL1A2
voltage-gated calcium channel alpha 1 subunit
voltage-gated calcium channel alpha subunit Cav1.3
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Lecturas adicionales y referencias
- calcium voltage-gated channel subunit alpha1 D; MedlinePlus, National Library of Medicine.
- 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, Kusters 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 CACNA1D underlie a common subtype of adrenal hypertension. Nat Genet. 2013 Sep;45(9):1055-60. doi: 10.1038/ng.2716. Epub 2013 Aug 4.
- Baig SM, Koschak A, Lieb A, Gebhart M, Dafinger C, Nurnberg G, Ali A, Ahmad I, Sinnegger-Brauns MJ, Brandt N, Engel J, Mangoni ME, Farooq M, Khan HU, Nurnberg P, Striessnig J, Bolz HJ. Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness. Nat Neurosci. 2011 Jan;14(1):77-84. doi: 10.1038/nn.2694. Epub 2010 Dec 5.
- 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 Aug 1;26(15):2923-2932. doi: 10.1093/hmg/ddx175.
- Scholl UI, Goh G, Stolting 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, Akerstrom G, Bjorklund P, Carling T, Fahlke C, Hidalgo P, Lifton RP. Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism. Nat Genet. 2013 Sep;45(9):1050-4. doi: 10.1038/ng.2695. Epub 2013 Aug 4.
- Striessnig J, Pinggera A, Kaur G, Bock G, Tuluc P. L-type Ca2+ channels in heart and brain. Wiley Interdiscip Rev Membr Transp Signal. 2014 Mar 1;3(2):15-38. doi: 10.1002/wmts.102.
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