sodium voltage-gated channel alpha subunit 2
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The SCN2A gene belongs to a family of genes that provide instructions for making sodium channels. These channels, which transport positively charged atoms (ions) of sodium into cells, play a key role in a cell's ability to generate and transmit electrical signals.
Normal function
The SCN2A gene belongs to a family of genes that provide instructions for making sodium channels. These channels, which transport positively charged atoms (ions) of sodium into cells, play a key role in a cell's ability to generate and transmit electrical signals.
The SCN2A gene provides instructions for making one part (the alpha subunit) of a sodium channel called NaV1.2. These channels are primarily found in the brain, where they control the flow of sodium ions into nerve cells (neurons). NaV1.2 channels are involved in transmitting signals from one neuron to another. Communication between neurons depends on chemicals called neurotransmitters, which are released from one neuron and taken up by neighboring neurons. The flow of sodium ions through NaV1.2 channels helps determine when neurotransmitters will be released.
Conditions referring to this gene or chromosome
Altri nomi
NAC2
NAV1.2
SCN2A1
SCN2A2
sodium channel, brain type II, alpha subunit
sodium channel, voltage gated, type II alpha subunit
sodium channel, voltage-gated, type II, alpha 1 polypeptide
sodium channel, voltage-gated, type II, alpha 2 polypeptide
sodium channel, voltage-gated, type II, alpha subunit
sodium voltage-gated channel, alpha subunit 2
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Ulteriori letture e riferimenti
- sodium voltage-gated channel alpha subunit 2; MedlinePlus, National Library of Medicine.
- Howell KB, McMahon JM, Carvill GL, Tambunan D, Mackay MT, Rodriguez-Casero V, Webster R, Clark D, Freeman JL, Calvert S, Olson HE, Mandelstam S, Poduri A, Mefford HC, Harvey AS, Scheffer IE. SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures. Neurology. 2015 Sep 15;85(11):958-66. doi: 10.1212/WNL.0000000000001926. Epub 2015 Aug 19.
- Thompson CH, Potet F, Abramova TV, DeKeyser JM, Ghabra NF, Vanoye CG, Millichap JJ, George AL. Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and complex functional properties. J Gen Physiol. 2023 Oct 2;155(10):e202313375. doi: 10.1085/jgp.202313375. Epub 2023 Aug 14.
- Yang XR, Ginjupalli VKM, Theriault O, Poulin H, Appendino JP, Au PYB, Chahine M. SCN2A-related epilepsy of infancy with migrating focal seizures: report of a variant with apparent gain- and loss-of-function effects. J Neurophysiol. 2022 May 1;127(5):1388-1397. doi: 10.1152/jn.00309.2021. Epub 2022 Apr 13.
- Zeng Q, Yang Y, Duan J, Niu X, Chen Y, Wang D, Zhang J, Chen J, Yang X, Li J, Yang Z, Jiang Y, Liao J, Zhang Y. SCN2A-Related Epilepsy: The Phenotypic Spectrum, Treatment and Prognosis. Front Mol Neurosci. 2022 Mar 30;15:809951. doi: 10.3389/fnmol.2022.809951. eCollection 2022.
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