sodium voltage-gated channel alpha subunit 8
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L SCN8A gene belongs to a family of genes that provide instructions for making sodium channels. These channels allow positively charged sodium (Na) atoms (sodium ions) to pass into cells; they play a key role in a cell's ability to generate and transmit electrical signals.
Normal function
L SCN8A gene belongs to a family of genes that provide instructions for making sodium channels. These channels allow positively charged sodium (Na) atoms (sodium ions) to pass into cells; they play a key role in a cell's ability to generate and transmit electrical signals.
L SCN8A gene provides instructions for making one part (the alpha subunit) of a sodium channel called Nav1.6. The alpha subunit forms the hole (pore) in the cell membrane through which sodium ions flow. Nav1.6 channels are primarily found in the nerve cells (neurons) of the brain and spinal cord (central nervous system) and neurons that connect the central nervous system to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound (the peripheral nervous system). Nav1.6 channels control the flow of sodium ions into cells, which makes it possible for neurons to communicate by generating and transmitting electrical signals.
Conditions referring to this gene or chromosome
Altri nomi
BFIS5
CERIII
CIAT
hNa6/Scn8a voltage-gated sodium channel
NaCh6
Nav1.6
sodium channel, voltage gated, type VIII, alpha subunit
voltage-gated sodium channel subunit alpha Nav1.6
voltage-gated sodium channel type VIII alpha protein
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Ulteriori letture e riferimenti
- sodium voltage-gated channel alpha subunit 8; MedlinePlus, National Library of Medicine.
- Butler KM, da Silva C, Shafir Y, Weisfeld-Adams JD, Alexander JJ, Hegde M, Escayg A. De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis. Epilepsy Res. 2017 Jan;129:17-25. doi: 10.1016/j.eplepsyres.2016.11.002. Epub 2016 Nov 6.
- O'Brien JE, Meisler MH. Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability. Front Genet. 2013 Oct 28;4:213. doi: 10.3389/fgene.2013.00213.
- Ohba C, Kato M, Takahashi S, Lerman-Sagie T, Lev D, Terashima H, Kubota M, Kawawaki H, Matsufuji M, Kojima Y, Tateno A, Goldberg-Stern H, Straussberg R, Marom D, Leshinsky-Silver E, Nakashima M, Nishiyama K, Tsurusaki Y, Miyake N, Tanaka F, Matsumoto N, Saitsu H. Early onset epileptic encephalopathy caused by de novo SCN8A mutations. Epilepsia. 2014 Jul;55(7):994-1000. doi: 10.1111/epi.12668. Epub 2014 Jun 2.
- Wagnon JL, Barker BS, Hounshell JA, Haaxma CA, Shealy A, Moss T, Parikh S, Messer RD, Patel MK, Meisler MH. Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy. Ann Clin Transl Neurol. 2015 Dec 21;3(2):114-23. doi: 10.1002/acn3.276. eCollection 2016 Feb.
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