sodium voltage-gated channel alpha subunit 9
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The SCN9A gene belongs to a family of genes that provide instructions for making sodium channels. These channels, which transport positively charged sodium atoms (sodium ions) into cells, play a key role in a cell's ability to generate and transmit electrical signals.
Normal function
The SCN9A gene belongs to a family of genes that provide instructions for making sodium channels. These channels, which transport positively charged sodium atoms (sodium ions) into cells, play a key role in a cell's ability to generate and transmit electrical signals.
The SCN9A gene provides instructions for making one part (the alpha subunit) of a sodium channel called NaV1.7. NaV1.7 sodium channels are found in nerve cells called nociceptors. Nociceptors are part of the peripheral nervous system, which connects the brain and spinal cord to cells that detect sensations such as touch, smell, and pain. Nociceptors are primarily involved in transmitting pain signals. The cell bodies of nociceptors are located in the spinal cord. Fibers called axons extend from the cell bodies, reaching throughout the body to receive sensory information. Axons transmit the information back to the spinal cord, which then sends it to the brain.
NaV1.7 sodium channels are also found in olfactory sensory neurons, which are nerve cells in the nasal cavity that transmit smell-related signals to the brain.
Conditions referring to this gene or chromosome
Otros nombres
hNE
Nav1.7
NE-NA
NENA
PN1
SCN9A_HUMAN
sodium channel, voltage gated, type IX alpha subunit
sodium channel, voltage-gated, type IX, alpha
sodium channel, voltage-gated, type IX, alpha polypeptide
sodium channel, voltage-gated, type IX, alpha subunit
voltage-gated sodium channel alpha subunit Nav1.7
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Lecturas adicionales y referencias
- sodium voltage-gated channel alpha subunit 9; MedlinePlus, National Library of Medicine.
- Cox JJ, Reimann F, Nicholas AK, Thornton G, Roberts E, Springell K, Karbani G, Jafri H, Mannan J, Raashid Y, Al-Gazali L, Hamamy H, Valente EM, Gorman S, Williams R, McHale DP, Wood JN, Gribble FM, Woods CG. An SCN9A channelopathy causes congenital inability to experience pain. Nature. 2006 Dec 14;444(7121):894-8. doi: 10.1038/nature05413.
- Dib-Hajj SD, Cummins TR, Black JA, Waxman SG. From genes to pain: Na v 1.7 and human pain disorders. Trends Neurosci. 2007 Nov;30(11):555-63. doi: 10.1016/j.tins.2007.08.004. Epub 2007 Oct 22.
- Dib-Hajj SD, Yang Y, Waxman SG. Genetics and molecular pathophysiology of Na(v)1.7-related pain syndromes. Adv Genet. 2008;63:85-110. doi: 10.1016/S0065-2660(08)01004-3.
- Doty CN. SCN9A: another sodium channel excited to play a role in human epilepsies. Clin Genet. 2010 Apr;77(4):326-8. doi: 10.1111/j.1399-0004.2009.01366_1.x. Epub 2010 Jan 20. No abstract available.
- Drenth JP, Waxman SG. Mutations in sodium-channel gene SCN9A cause a spectrum of human genetic pain disorders. J Clin Invest. 2007 Dec;117(12):3603-9. doi: 10.1172/JCI33297.
- Faber CG, Hoeijmakers JG, Ahn HS, Cheng X, Han C, Choi JS, Estacion M, Lauria G, Vanhoutte EK, Gerrits MM, Dib-Hajj S, Drenth JP, Waxman SG, Merkies IS. Gain of function Nanu1.7 mutations in idiopathic small fiber neuropathy. Ann Neurol. 2012 Jan;71(1):26-39. doi: 10.1002/ana.22485. Epub 2011 Jun 22.
- Fertleman CR, Ferrie CD, Aicardi J, Bednarek NA, Eeg-Olofsson O, Elmslie FV, Griesemer DA, Goutieres F, Kirkpatrick M, Malmros IN, Pollitzer M, Rossiter M, Roulet-Perez E, Schubert R, Smith VV, Testard H, Wong V, Stephenson JB. Paroxysmal extreme pain disorder (previously familial rectal pain syndrome). Neurology. 2007 Aug 7;69(6):586-95. doi: 10.1212/01.wnl.0000268065.16865.5f.
- Fischer TZ, Waxman SG. Familial pain syndromes from mutations of the NaV1.7 sodium channel. Ann N Y Acad Sci. 2010 Jan;1184:196-207. doi: 10.1111/j.1749-6632.2009.05110.x.
- Goldberg YP, MacFarlane J, MacDonald ML, Thompson J, Dube MP, Mattice M, Fraser R, Young C, Hossain S, Pape T, Payne B, Radomski C, Donaldson G, Ives E, Cox J, Younghusband HB, Green R, Duff A, Boltshauser E, Grinspan GA, Dimon JH, Sibley BG, Andria G, Toscano E, Kerdraon J, Bowsher D, Pimstone SN, Samuels ME, Sherrington R, Hayden MR. Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations. Clin Genet. 2007 Apr;71(4):311-9. doi: 10.1111/j.1399-0004.2007.00790.x.
- Hoeijmakers JG, Merkies IS, Gerrits MM, Waxman SG, Faber CG. Genetic aspects of sodium channelopathy in small fiber neuropathy. Clin Genet. 2012 Oct;82(4):351-8. doi: 10.1111/j.1399-0004.2012.01937.x. Epub 2012 Aug 7.
- Houlden H. Extending the clinical spectrum of pain channelopathies. Brain. 2012 Feb;135(Pt 2):313-6. doi: 10.1093/brain/aws007. No abstract available.
- Lampert A, O'Reilly AO, Reeh P, Leffler A. Sodium channelopathies and pain. Pflugers Arch. 2010 Jul;460(2):249-63. doi: 10.1007/s00424-009-0779-3. Epub 2010 Jan 26.
- Meisler MH, O'Brien JE, Sharkey LM. Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects. J Physiol. 2010 Jun 1;588(Pt 11):1841-8. doi: 10.1113/jphysiol.2010.188482. Epub 2010 Mar 29.
- Singh NA, Pappas C, Dahle EJ, Claes LR, Pruess TH, De Jonghe P, Thompson J, Dixon M, Gurnett C, Peiffer A, White HS, Filloux F, Leppert MF. A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. PLoS Genet. 2009 Sep;5(9):e1000649. doi: 10.1371/journal.pgen.1000649. Epub 2009 Sep 18.
- Waxman SG. Neurobiology: a channel sets the gain on pain. Nature. 2006 Dec 14;444(7121):831-2. doi: 10.1038/444831a. No abstract available.
- Waxman SG. Neuroscience: Channelopathies have many faces. Nature. 2011 Apr 14;472(7342):173-4. doi: 10.1038/472173a. No abstract available.
- Young FB. When adaptive processes go awry: gain-of-function in SCN9A. Clin Genet. 2008 Jan;73(1):34-6. doi: 10.1111/j.1399-0004.2007.00922.x. Epub 2007 Dec 6. No abstract available.
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