Sodium channel protein type 9 subunit alpha
Details
- Name
- Sodium channel protein type 9 subunit alpha
- Kind
- protein
- Synonyms
- hNE-Na
- NENA
- Neuroendocrine sodium channel
- Peripheral sodium channel 1
- PN1
- Sodium channel protein type IX subunit alpha
- Voltage-gated sodium channel subunit alpha Nav1.7
- Gene Name
- SCN9A
- UniProtKB Entry
- Q15858Swiss-Prot
- Organism
- Humans
- NCBI Taxonomy ID
- 9606
- Amino acid sequence
>lcl|BSEQ0037129|Sodium channel protein type 9 subunit alpha MAMLPPPGPQSFVHFTKQSLALIEQRIAERKSKEPKEEKKDDDEEAPKPSSDLEAGKQLP FIYGDIPPGMVSEPLEDLDPYYADKKTFIVLNKGKTIFRFNATPALYMLSPFSPLRRISI KILVHSLFSMLIMCTILTNCIFMTMNNPPDWTKNVEYTFTGIYTFESLVKILARGFCVGE FTFLRDPWNWLDFVVIVFAYLTEFVNLGNVSALRTFRVLRALKTISVIPGLKTIVGALIQ SVKKLSDVMILTVFCLSVFALIGLQLFMGNLKHKCFRNSLENNETLESIMNTLESEEDFR KYFYYLEGSKDALLCGFSTDSGQCPEGYTCVKIGRNPDYGYTSFDTFSWAFLALFRLMTQ DYWENLYQQTLRAAGKTYMIFFVVVIFLGSFYLINLILAVVAMAYEEQNQANIEEAKQKE LEFQQMLDRLKKEQEEAEAIAAAAAEYTSIRRSRIMGLSESSSETSKLSSKSAKERRNRR KKKNQKKLSSGEEKGDAEKLSKSESEDSIRRKSFHLGVEGHRRAHEKRLSTPNQSPLSIR GSLFSARRSSRTSLFSFKGRGRDIGSETEFADDEHSIFGDNESRRGSLFVPHRPQERRSS NISQASRSPPMLPVNGKMHSAVDCNGVVSLVDGRSALMLPNGQLLPEVIIDKATSDDSGT TNQIHKKRRCSSYLLSEDMLNDPNLRQRAMSRASILTNTVEELEESRQKCPPWWYRFAHK FLIWNCSPYWIKFKKCIYFIVMDPFVDLAITICIVLNTLFMAMEHHPMTEEFKNVLAIGN LVFTGIFAAEMVLKLIAMDPYEYFQVGWNIFDSLIVTLSLVELFLADVEGLSVLRSFRLL RVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFGKSYKECVCKIN DDCTLPRWHMNDFFHSFLIVFRVLCGEWIETMWDCMEVAGQAMCLIVYMMVMVIGNLVVL NLFLALLLSSFSSDNLTAIEEDPDANNLQIAVTRIKKGINYVKQTLREFILKAFSKKPKI SREIRQAEDLNTKKENYISNHTLAEMSKGHNFLKEKDKISGFGSSVDKHLMEDSDGQSFI HNPSLTVTVPIAPGESDLENMNAEELSSDSDSEYSKVRLNRSSSSECSTVDNPLPGEGEE AEAEPMNSDEPEACFTDGCVWRFSCCQVNIESGKGKIWWNIRKTCYKIVEHSWFESFIVL MILLSSGALAFEDIYIERKKTIKIILEYADKIFTYIFILEMLLKWIAYGYKTYFTNAWCW LDFLIVDVSLVTLVANTLGYSDLGPIKSLRTLRALRPLRALSRFEGMRVVVNALIGAIPS IMNVLLVCLIFWLIFSIMGVNLFAGKFYECINTTDGSRFPASQVPNRSECFALMNVSQNV RWKNLKVNFDNVGLGYLSLLQVATFKGWTIIMYAAVDSVNVDKQPKYEYSLYMYIYFVVF IIFGSFFTLNLFIGVIIDNFNQQKKKLGGQDIFMTEEQKKYYNAMKKLGSKKPQKPIPRP GNKIQGCIFDLVTNQAFDISIMVLICLNMVTMMVEKEGQSQHMTEVLYWINVVFIILFTG ECVLKLISLRHYYFTVGWNIFDFVVVIISIVGMFLADLIETYFVSPTLFRVIRLARIGRI LRLVKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYAIFGMSNFAYVKKEDGINDMFN FETFGNSMICLFQITTSAGWDGLLAPILNSKPPDCDPKKVHPGSSVEGDCGNPSVGIFYF VSYIIISFLVVVNMYIAVILENFSVATEESTEPLSEDDFEMFYEVWEKFDPDATQFIEFS KLSDFAAALDPPLLIAKPNKVQLIAMDLPMVSGDRIHCLDILFAFTKRVLGESGEMDSLR SQMEERFMSANPSKVSYEPITTTLKRKQEDVSATVIQRAYRRYRLRQNVKNISSIYIKDG DRDDDLLNKKDMAFDNVNENSSPEKTDATSSTTSPPSYDSVTKPDKEKYEQDRTEKEDKG KDSKESKK
- Number of residues
- 1988
- Molecular Weight
- 226370.175
- Theoretical pI
- 6.98
- GO Classification
- Processescardiac muscle cell action potential involved in contraction / circadian rhythm / detection of mechanical stimulus involved in sensory perception / detection of temperature stimulus involved in sensory perception of pain / sensory perception of painComponentsaxon
- General Function
- Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient (PubMed:15385606, PubMed:16988069, PubMed:17145499, PubMed:17167479, PubMed:19369487, PubMed:24311784, PubMed:25240195, PubMed:26680203, PubMed:7720699). It is a tetrodotoxin-sensitive Na(+) channel isoform (PubMed:7720699). Plays a role in pain mechanisms, especially in the development of inflammatory pain (PubMed:17145499, PubMed:17167479, PubMed:19369487, PubMed:24311784)
- Specific Function
- voltage-gated sodium channel activity
- Pfam Domain Function
- Signal Regions
- Not Available
- Transmembrane Regions
- 127-145 153-173 188-205 212-228 248-267 379-399 745-763 775-794 809-828 831-848 865-883 947-967 1194-1211 1225-1243 1258-1276 1285-1303 1321-1340 1432-1453 1517-1534 1546-1564 1577-1594 1608-1624 1644-1661 1737-1759
- Cellular Location
- Cell membrane
- Gene sequence
>lcl|BSEQ0010799|Sodium channel protein type 9 subunit alpha (SCN9A) ATGGCAATGTTGCCTCCCCCAGGACCTCAGAGCTTTGTCCATTTCACAAAACAGTCTCTT GCCCTCATTGAACAACGCATTGCTGAAAGAAAATCAAAGGAACCCAAAGAAGAAAAGAAA GATGATGATGAAGAAGCCCCAAAGCCAAGCAGTGACTTGGAAGCTGGCAAACAGCTGCCC TTCATCTATGGGGACATTCCTCCCGGCATGGTGTCAGAGCCCCTGGAGGACTTGGACCCC TACTATGCAGACAAAAAGACTTTCATAGTATTGAACAAAGGGAAAACAATCTTCCGTTTC AATGCCACACCTGCTTTATATATGCTTTCTCCTTTCAGTCCTCTAAGAAGAATATCTATT AAGATTTTAGTACACTCCTTATTCAGCATGCTCATCATGTGCACTATTCTGACAAACTGC ATATTTATGACCATGAATAACCCACCGGACTGGACCAAAAATGTCGAGTACACTTTTACT GGAATATATACTTTTGAATCACTTGTAAAAATCCTTGCAAGAGGCTTCTGTGTAGGAGAA TTCACTTTTCTTCGTGACCCGTGGAACTGGCTGGATTTTGTCGTCATTGTTTTTGCGTAT TTAACAGAATTTGTAAACCTAGGCAATGTTTCAGCTCTTCGAACTTTCAGAGTATTGAGA GCTTTGAAAACTATTTCTGTAATCCCAGGCCTGAAGACAATTGTAGGGGCTTTGATCCAG TCAGTGAAGAAGCTTTCTGATGTCATGATCCTGACTGTGTTCTGTCTGAGTGTGTTTGCA CTAATTGGACTACAGCTGTTCATGGGAAACCTGAAGCATAAATGTTTTCGAAATTCACTT GAAAATAATGAAACATTAGAAAGCATAATGAATACCCTAGAGAGTGAAGAAGACTTTAGA AAATATTTTTATTACTTGGAAGGATCCAAAGATGCTCTCCTTTGTGGTTTCAGCACAGAT TCAGGTCAGTGTCCAGAGGGGTACACCTGTGTGAAAATTGGCAGAAACCCTGATTATGGC TACACGAGCTTTGACACTTTCAGCTGGGCCTTCTTAGCCTTGTTTAGGCTAATGACCCAA GATTACTGGGAAAACCTTTACCAACAGACGCTGCGTGCTGCTGGCAAAACCTACATGATC TTCTTTGTCGTAGTGATTTTCCTGGGCTCCTTTTATCTAATAAACTTGATCCTGGCTGTG GTTGCCATGGCATATGAAGAACAGAACCAGGCAAACATTGAAGAAGCTAAACAGAAAGAA TTAGAATTTCAACAGATGTTAGACCGTCTTAAAAAAGAGCAAGAAGAAGCTGAGGCAATT GCAGCGGCAGCGGCTGAATATACAAGTATTAGGAGAAGCAGAATTATGGGCCTCTCAGAG AGTTCTTCTGAAACATCCAAACTGAGCTCTAAAAGTGCTAAAGAAAGAAGAAACAGAAGA AAGAAAAAGAATCAAAAGAAGCTCTCCAGTGGAGAGGAAAAGGGAGATGCTGAGAAATTG TCGAAATCAGAATCAGAGGACAGCATCAGAAGAAAAAGTTTCCACCTTGGTGTCGAAGGG CATAGGCGAGCACATGAAAAGAGGTTGTCTACCCCCAATCAGTCACCACTCAGCATTCGT GGCTCCTTGTTTTCTGCAAGGCGAAGCAGCAGAACAAGTCTTTTTAGTTTCAAAGGCAGA GGAAGAGATATAGGATCTGAGACTGAATTTGCCGATGATGAGCACAGCATTTTTGGAGAC AATGAGAGCAGAAGGGGCTCACTGTTTGTGCCCCACAGACCCCAGGAGCGACGCAGCAGT AACATCAGCCAAGCCAGTAGGTCCCCACCAATGCTGCCGGTGAACGGGAAAATGCACAGT GCTGTGGACTGCAACGGTGTGGTCTCCCTGGTTGATGGACGCTCAGCCCTCATGCTCCCC AATGGACAGCTTCTGCCAGAGGGCACGACCAATCAAATACACAAGAAAAGGCGTTGTAGT TCCTATCTCCTTTCAGAGGATATGCTGAATGATCCCAACCTCAGACAGAGAGCAATGAGT AGAGCAAGCATATTAACAAACACTGTGGAAGAACTTGAAGAGTCCAGACAAAAATGTCCA CCTTGGTGGTACAGATTTGCACACAAATTCTTGATCTGGAATTGCTCTCCATATTGGATA AAATTCAAAAAGTGTATCTATTTTATTGTAATGGATCCTTTTGTAGATCTTGCAATTACC ATTTGCATAGTTTTAAACACATTATTTATGGCTATGGAACACCACCCAATGACTGAGGAA TTCAAAAATGTACTTGCTATAGGAAATTTGGTCTTTACTGGAATCTTTGCAGCTGAAATG GTATTAAAACTGATTGCCATGGATCCATATGAGTATTTCCAAGTAGGCTGGAATATTTTT GACAGCCTTATTGTGACTTTAAGTTTAGTGGAGCTCTTTCTAGCAGATGTGGAAGGATTG TCAGTTCTGCGATCATTCAGACTGCTCCGAGTCTTCAAGTTGGCAAAATCCTGGCCAACA TTGAACATGCTGATTAAGATCATTGGTAACTCAGTAGGGGCTCTAGGTAACCTCACCTTA GTGTTGGCCATCATCGTCTTCATTTTTGCTGTGGTCGGCATGCAGCTCTTTGGTAAGAGC TACAAAGAATGTGTCTGCAAGATCAATGATGACTGTACGCTCCCACGGTGGCACATGAAC GACTTCTTCCACTCCTTCCTGATTGTGTTCCGCGTGCTGTGTGGAGAGTGGATAGAGACC ATGTGGGACTGTATGGAGGTCGCTGGTCAAGCTATGTGCCTTATTGTTTACATGATGGTC ATGGTCATTGGAAACCTGGTGGTCCTAAACCTATTTCTGGCCTTATTATTGAGCTCATTT AGTTCAGACAATCTTACAGCAATTGAAGAAGACCCTGATGCAAACAACCTCCAGATTGCA GTGACTAGAATTAAAAAGGGAATAAATTATGTGAAACAAACCTTACGTGAATTTATTCTA AAAGCATTTTCCAAAAAGCCAAAGATTTCCAGGGAGATAAGACAAGCAGAAGATCTGAAT ACTAAGAAGGAAAACTATATTTCTAACCATACACTTGCTGAAATGAGCAAAGGTCACAAT TTCCTCAAGGAAAAAGATAAAATCAGTGGTTTTGGAAGCAGCGTGGACAAACACTTGATG GAAGACAGTGATGGTCAATCATTTATTCACAATCCCAGCCTCACAGTGACAGTGCCAATT GCACCTGGGGAATCCGATTTGGAAAATATGAATGCTGAGGAACTTAGCAGTGATTCGGAT AGTGAATACAGCAAAGTGAGATTAAACCGGTCAAGCTCCTCAGAGTGCAGCACAGTTGAT AACCCTTTGCCTGGAGAAGGAGAAGAAGCAGAGGCTGAACCTATGAATTCCGATGAGCCA GAGGCCTGTTTCACAGATGGTTGTGTACGGAGGTTCTCATGCTGCCAAGTTAACATAGAG TCAGGGAAAGGAAAAATCTGGTGGAACATCAGGAAAACCTGCTACAAGATTGTTGAACAC AGTTGGTTTGAAAGCTTCATTGTCCTCATGATCCTGCTCAGCAGTGGTGCCCTGGCTTTT GAAGATATTTATATTGAAAGGAAAAAGACCATTAAGATTATCCTGGAGTATGCAGACAAG ATCTTCACTTACATCTTCATTCTGGAAATGCTTCTAAAATGGATAGCATATGGTTATAAA ACATATTTCACCAATGCCTGGTGTTGGCTGGATTTCCTAATTGTTGATGTTTCTTTGGTT ACTTTAGTGGCAAACACTCTTGGCTACTCAGATCTTGGCCCCATTAAATCCCTTCGGACA CTGAGAGCTTTAAGACCTCTAAGAGCCTTATCTAGATTTGAAGGAATGAGGGTCGTTGTG AATGCACTCATAGGAGCAATTCCTTCCATCATGAATGTGCTACTTGTGTGTCTTATATTC TGGCTGATATTCAGCATCATGGGAGTAAATTTGTTTGCTGGCAAGTTCTATGAGTGTATT AACACCACAGATGGGTCACGGTTTCCTGCAAGTCAAGTTCCAAATCGTTCCGAATGTTTT GCCCTTATGAATGTTAGTCAAAATGTGCGATGGAAAAACCTGAAAGTGAACTTTGATAAT GTCGGACTTGGTTACCTATCTCTGCTTCAAGTTGCAACTTTTAAGGGATGGACGATTATT ATGTATGCAGCAGTGGATTCTGTTAATGTAGACAAGCAGCCCAAATATGAATATAGCCTC TACATGTATATTTATTTTGTCGTCTTTATCATCTTTGGGTCATTCTTCACTTTGAACTTG TTCATTGGTGTCATCATAGATAATTTCAACCAACAGAAAAAGAAGCTTGGAGGTCAAGAC ATCTTTATGACAGAAGAACAGAAGAAATACTATAATGCAATGAAAAAGCTGGGGTCCAAG AAGCCACAAAAGCCAATTCCTCGACCAGGGAACAAAATCCAAGGATGTATATTTGACCTA GTGACAAATCAAGCCTTTGATATTAGTATCATGGTTCTTATCTGTCTCAACATGGTAACC ATGATGGTAGAAAAGGAGGGTCAAAGTCAACATATGACTGAAGTTTTATATTGGATAAAT GTGGTTTTTATAATCCTTTTCACTGGAGAATGTGTGCTAAAACTGATCTCCCTCAGACAC TACTACTTCACTGTAGGATGGAATATTTTTGATTTTGTGGTTGTGATTATCTCCATTGTA GGTATGTTTCTAGCTGATTTGATTGAAACGTATTTTGTGTCCCCTACCCTGTTCCGAGTG ATCCGTCTTGCCAGGATTGGCCGAATCCTACGTCTAGTCAAAGGAGCAAAGGGGATCCGC ACGCTGCTCTTTGCTTTGATGATGTCCCTTCCTGCGTTGTTTAACATCGGCCTCCTGCTC TTCCTGGTCATGTTCATCTACGCCATCTTTGGAATGTCCAACTTTGCCTATGTTAAAAAG GAAGATGGAATTAATGACATGTTCAATTTTGAGACCTTTGGCAACAGTATGATTTGCCTG TTCCAAATTACAACCTCTGCTGGCTGGGATGGATTGCTAGCACCTATTCTTAACAGTAAG CCACCCGACTGTGACCCAAAAAAAGTTCATCCTGGAAGTTCAGTTGAAGGAGACTGTGGT AACCCATCTGTTGGAATATTCTACTTTGTTAGTTATATCATCATATCCTTCCTGGTTGTG GTGAACATGTACATTGCAGTCATACTGGAGAATTTTAGTGTTGCCACTGAAGAAAGTACT GAACCTCTGAGTGAGGATGACTTTGAGATGTTCTATGAGGTTTGGGAGAAGTTTGATCCC GATGCGACCCAGTTTATAGAGTTCTCTAAACTCTCTGATTTTGCAGCTGCCCTGGATCCT CCTCTTCTCATAGCAAAACCCAACAAAGTCCAGCTCATTGCCATGGATCTGCCCATGGTT AGTGGTGACCGGATCCATTGTCTTGACATCTTATTTGCTTTTACAAAGCGTGTTTTGGGT GAGAGTGGGGAGATGGATTCTCTTCGTTCACAGATGGAAGAAAGGTTCATGTCTGCAAAT CCTTCCAAAGTGTCCTATGAACCCATCACAACCACACTAAAACGGAAACAAGAGGATGTG TCTGCTACTGTCATTCAGCGTGCTTATAGACGTTACCGCTTAAGGCAAAATGTCAAAAAT ATATCAAGTATATACATAAAAGATGGAGACAGAGATGATGATTTACTCAATAAAAAAGAT ATGGCTTTTGATAATGTTAATGAGAACTCAAGTCCAGAAAAAACAGATGCCACTTCATCC ACCACCTCTCCACCTTCATATGATAGTGTAACAAAGCCAGACAAAGAGAAATATGAACAA GACAGAACAGAAAAGGAAGACAAAGGGAAAGACAGCAAGGAAAGCAAAAAATAG
- Chromosome Location
- 2
- Locus
- 2q24.3
- External Identifiers
Resource Link UniProtKB ID Q15858 UniProtKB Entry Name SCN9A_HUMAN GenBank Protein ID 758110 GenBank Gene ID X82835 GeneCard ID SCN9A GenAtlas ID SCN9A HGNC ID HGNC:10597 PDB ID(s) 5EK0, 6J8G, 6J8H, 6J8I, 6J8J, 6N4Q, 6N4R, 6NT3, 6NT4, 6VXO, 6W6O, 7K48, 7W9K, 7W9L, 7W9M, 7W9P, 7W9T, 7XM9, 7XMF, 7XMG, 7XVE, 7XVF, 8F0P, 8F0Q, 8F0R, 8F0S, 8G1A, 8I5B, 8I5G, 8I5X, 8I5Y, 8J4F, 8S9B, 8S9C, 8THG, 8THH, 8XMM, 8XMN, 8XMO KEGG ID hsa:6335 IUPHAR/Guide To Pharmacology ID 584 NCBI Gene ID 6335 - General References
- Klugbauer N, Lacinova L, Flockerzi V, Hofmann F: Structure and functional expression of a new member of the tetrodotoxin-sensitive voltage-activated sodium channel family from human neuroendocrine cells. EMBO J. 1995 Mar 15;14(6):1084-90. [Article]
- 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. [Article]
- Hillier LW, Graves TA, Fulton RS, Fulton LA, Pepin KH, Minx P, Wagner-McPherson C, Layman D, Wylie K, Sekhon M, Becker MC, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Kremitzki C, Oddy L, Du H, Sun H, Bradshaw-Cordum H, Ali J, Carter J, Cordes M, Harris A, Isak A, van Brunt A, Nguyen C, Du F, Courtney L, Kalicki J, Ozersky P, Abbott S, Armstrong J, Belter EA, Caruso L, Cedroni M, Cotton M, Davidson T, Desai A, Elliott G, Erb T, Fronick C, Gaige T, Haakenson W, Haglund K, Holmes A, Harkins R, Kim K, Kruchowski SS, Strong CM, Grewal N, Goyea E, Hou S, Levy A, Martinka S, Mead K, McLellan MD, Meyer R, Randall-Maher J, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Shah N, Swearengen-Shahid S, Snider J, Strong JT, Thompson J, Yoakum M, Leonard S, Pearman C, Trani L, Radionenko M, Waligorski JE, Wang C, Rock SM, Tin-Wollam AM, Maupin R, Latreille P, Wendl MC, Yang SP, Pohl C, Wallis JW, Spieth J, Bieri TA, Berkowicz N, Nelson JO, Osborne J, Ding L, Meyer R, Sabo A, Shotland Y, Sinha P, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Jones TA, She X, Ciccarelli FD, Izaurralde E, Taylor J, Schmutz J, Myers RM, Cox DR, Huang X, McPherson JD, Mardis ER, Clifton SW, Warren WC, Chinwalla AT, Eddy SR, Marra MA, Ovcharenko I, Furey TS, Miller W, Eichler EE, Bork P, Suyama M, Torrents D, Waterston RH, Wilson RK: Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature. 2005 Apr 7;434(7034):724-31. [Article]
- Raymond CK, Castle J, Garrett-Engele P, Armour CD, Kan Z, Tsinoremas N, Johnson JM: Expression of alternatively spliced sodium channel alpha-subunit genes. Unique splicing patterns are observed in dorsal root ganglia. J Biol Chem. 2004 Oct 29;279(44):46234-41. Epub 2004 Aug 9. [Article]
- Yang Y, Wang Y, Li S, Xu Z, Li H, Ma L, Fan J, Bu D, Liu B, Fan Z, Wu G, Jin J, Ding B, Zhu X, Shen Y: Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia. J Med Genet. 2004 Mar;41(3):171-4. [Article]
- Sangameswaran L, Fish LM, Koch BD, Rabert DK, Delgado SG, Ilnicka M, Jakeman LB, Novakovic S, Wong K, Sze P, Tzoumaka E, Stewart GR, Herman RC, Chan H, Eglen RM, Hunter JC: A novel tetrodotoxin-sensitive, voltage-gated sodium channel expressed in rat and human dorsal root ganglia. J Biol Chem. 1997 Jun 6;272(23):14805-9. [Article]
- Jo T, Nagata T, Iida H, Imuta H, Iwasawa K, Ma J, Hara K, Omata M, Nagai R, Takizawa H, Nagase T, Nakajima T: Voltage-gated sodium channel expressed in cultured human smooth muscle cells: involvement of SCN9A. FEBS Lett. 2004 Jun 4;567(2-3):339-43. [Article]
- Cummins TR, Dib-Hajj SD, Waxman SG: Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy. J Neurosci. 2004 Sep 22;24(38):8232-6. [Article]
- Michiels JJ, te Morsche RH, Jansen JB, Drenth JP: Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha subunit Nav1.7. Arch Neurol. 2005 Oct;62(10):1587-90. [Article]
- Dib-Hajj SD, Rush AM, Cummins TR, Hisama FM, Novella S, Tyrrell L, Marshall L, Waxman SG: Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons. Brain. 2005 Aug;128(Pt 8):1847-54. Epub 2005 Jun 15. [Article]
- Drenth JP, te Morsche RH, Guillet G, Taieb A, Kirby RL, Jansen JB: SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels. J Invest Dermatol. 2005 Jun;124(6):1333-8. [Article]
- Han C, Rush AM, Dib-Hajj SD, Li S, Xu Z, Wang Y, Tyrrell L, Wang X, Yang Y, Waxman SG: Sporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7. Ann Neurol. 2006 Mar;59(3):553-8. [Article]
- Choi JS, Dib-Hajj SD, Waxman SG: Inherited erythermalgia: limb pain from an S4 charge-neutral Na channelopathy. Neurology. 2006 Nov 14;67(9):1563-7. Epub 2006 Sep 20. [Article]
- Fertleman CR, Baker MD, Parker KA, Moffatt S, Elmslie FV, Abrahamsen B, Ostman J, Klugbauer N, Wood JN, Gardiner RM, Rees M: SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes. Neuron. 2006 Dec 7;52(5):767-74. [Article]
- Rush AM, Dib-Hajj SD, Liu S, Cummins TR, Black JA, Waxman SG: A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons. Proc Natl Acad Sci U S A. 2006 May 23;103(21):8245-50. Epub 2006 May 15. [Article]
- Estacion M, Dib-Hajj SD, Benke PJ, Te Morsche RH, Eastman EM, Macala LJ, Drenth JP, Waxman SG: NaV1.7 gain-of-function mutations as a continuum: A1632E displays physiological changes associated with erythromelalgia and paroxysmal extreme pain disorder mutations and produces symptoms of both disorders. J Neurosci. 2008 Oct 22;28(43):11079-88. doi: 10.1523/JNEUROSCI.3443-08.2008. [Article]
- Han C, Dib-Hajj SD, Lin Z, Li Y, Eastman EM, Tyrrell L, Cao X, Yang Y, Waxman SG: Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation. Brain. 2009 Jul;132(Pt 7):1711-22. doi: 10.1093/brain/awp078. Epub 2009 Apr 15. [Article]
- 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. [Article]
- Cox JJ, Sheynin J, Shorer Z, Reimann F, Nicholas AK, Zubovic L, Baralle M, Wraige E, Manor E, Levy J, Woods CG, Parvari R: Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutations. Hum Mutat. 2010 Sep;31(9):E1670-86. doi: 10.1002/humu.21325. [Article]
- Suter MR, Bhuiyan ZA, Laedermann CJ, Kuntzer T, Schaller M, Stauffacher MW, Roulet E, Abriel H, Decosterd I, Wider C: p.L1612P, a novel voltage-gated sodium channel Nav1.7 mutation inducing a cold sensitive paroxysmal extreme pain disorder. Anesthesiology. 2015 Feb;122(2):414-23. doi: 10.1097/ALN.0000000000000476. [Article]
- Eberhardt M, Nakajima J, Klinger AB, Neacsu C, Huhne K, O'Reilly AO, Kist AM, Lampe AK, Fischer K, Gibson J, Nau C, Winterpacht A, Lampert A: Inherited pain: sodium channel Nav1.7 A1632T mutation causes erythromelalgia due to a shift of fast inactivation. J Biol Chem. 2014 Jan 24;289(4):1971-80. doi: 10.1074/jbc.M113.502211. Epub 2013 Dec 5. [Article]
Associated Data
- Drug Relations
Drug Drug group Pharmacological action? Type Actions Details Lidocaine approved, vet_approved yes target inhibitor Details Lacosamide approved unknown target blocker Details Zonisamide approved, investigational yes target inhibitor Details Rufinamide approved unknown target modulator Details PF-05241328 investigational yes target inhibitor Details Funapide investigational yes target inhibitor Details PF-05089771 investigational yes target blocker Details Vixotrigine investigational yes target inhibitor Details