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Sodium Channel Voltage Gated Type V Alpha (SCN5a)

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HB1; HB2; CDCD2; CMD1E; CMPD2; HH1; IVF; LQT3; Nav1.5; SSS1; HBBD; PFHB1; ICCD; Long QT Syndrome 3; Sodium channel protein cardiac muscle subunit alpha

Sodium Channel Voltage Gated Type V Alpha (SCN5a)
CCC L095
HGNC 10593
MGI 98251
PubMed 23872634
RGD 3637
UniProt Q14524
Wiki Nav1.5
Mutations in the gene are associated with long QT syndrome type 3 (LQT3), Brugada syndrome, primary cardiac conduction disease and idiopathic ventricular fibrillation.
SCN5a is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. The encoded protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene are a cause of long QT syndrome type 3 (LQT3), an autosomal dominant cardiac disease. Alternative splicing results in two transcript variants encoding separate isoforms which differ by a single amino acid. Mutation nomenclature has been assigned with respect to the longer isoform.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Sodium Channel Voltage Gated Type V Alpha (SCN5a) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Sodium Channel Voltage Gated Type V Alpha (SCN5a) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Sodium Channel Voltage Gated Type V Alpha (SCN5a) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Sodium Channel Voltage Gated Type V Alpha (SCN5a) CLIA Kit Customized Service Offer
n/a ELISA Kit for Sodium Channel Voltage Gated Type V Alpha (SCN5a) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Sodium Channel Voltage Gated Type V Alpha (SCN5a) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Sodium Channel Voltage Gated Type V Alpha (SCN5a) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Sodium Channel Voltage Gated Type V Alpha (SCN5a) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Sodium Channel Voltage Gated Type V Alpha (SCN5a) CLIA Kit Customized Service Offer
n/a ELISA Kit for Sodium Channel Voltage Gated Type V Alpha (SCN5a) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Sodium Channel Voltage Gated Type V Alpha (SCN5a) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Sodium Channel Voltage Gated Type V Alpha (SCN5a) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Sodium Channel Voltage Gated Type V Alpha (SCN5a) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Sodium Channel Voltage Gated Type V Alpha (SCN5a) CLIA Kit Customized Service Offer
n/a ELISA Kit for Sodium Channel Voltage Gated Type V Alpha (SCN5a) ELISA Kit Customized Service Offer
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  28. "A De Novo missense mutation (R1623Q) of the SCN5A gene in a Japanese girl with sporadic long QT syndrome."Hum. Mutat. 12:481-481(1998)
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  30. "Sodium channel abnormalities are infrequent in patients with long QT syndrome: identification of two novel SCN5A mutations."Am. J. Med. Genet. 86:470-476(1999) [PubMed] [Europe PMC] [Abstract]
  31. "Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome."Cardiovasc. Res. 44:507-517(1999) [PubMed] [Europe PMC] [Abstract]
  32. "Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel."Circulation 99:3165-3171(1999) [PubMed] [Europe PMC] [Abstract]
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  34. "A single Na(+) channel mutation causing both long-QT and Brugada syndromes."Circ. Res. 85:1206-1213(1999) [PubMed] [Europe PMC] [Abstract]
  35. "Cardiac conduction defects associate with mutations in SCN5A."Nat. Genet. 23:20-21(1999) [PubMed] [Europe PMC] [Abstract]
  36. "Cardiac Na(+) channel dysfunction in Brugada syndrome is aggravated by beta(1)-subunit."Circulation 101:54-60(2000) [PubMed] [Europe PMC] [Abstract]
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  38. "A novel SCN5A mutation associated with idiopathic ventricular fibrillation without typical ECG findings of Brugada syndrome."FEBS Lett. 479:29-34(2000) [PubMed] [Europe PMC] [Abstract]
  39. "A molecular link between the sudden infant death syndrome and the long-QT syndrome."N. Engl. J. Med. 343:262-267(2000) [PubMed] [Europe PMC] [Abstract]
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  41. "Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes."J. Biol. Chem. 276:30623-30630(2001) [PubMed] [Europe PMC] [Abstract]
  42. "Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family."Circulation 104:3081-3086(2001) [PubMed] [Europe PMC] [Abstract]
  43. "Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome."JAMA 286:2264-2269(2001) [PubMed] [Europe PMC] [Abstract]
  44. "A sodium-channel mutation causes isolated cardiac conduction disease."Nature 409:1043-1047(2001) [PubMed] [Europe PMC] [Abstract]
  45. "Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients."J. Am. Coll. Cardiol. 40:350-356(2002) [PubMed] [Europe PMC] [Abstract]
  46. "Clinical, genetic and biophysical characterisation of SCN5A mutations associated with atrioventricular conduction block."Circulation 105:341-346(2002) [PubMed] [Europe PMC] [Abstract]
  47. "Na(+) channel mutation that causes both Brugada and long-QT syndrome phenotypes: a simulation study of mechanism."Circulation 105:1208-1213(2002) [PubMed] [Europe PMC] [Abstract]
  48. "Natural history of Brugada syndrome: insights for risk stratification and management."Circulation 105:1342-1347(2002) [PubMed] [Europe PMC] [Abstract]
  49. "Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes."Circulation 105:1943-1948(2002) [PubMed] [Europe PMC] [Abstract]
  50. "Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome."Hum. Mol. Genet. 11:337-345(2002) [PubMed] [Europe PMC] [Abstract]
  51. "SNP S1103Y in the cardiac sodium channel gene SCN5A is associated with cardiac arrhythmias and sudden death in a white family."J. Med. Genet. 39:913-915(2002) [PubMed] [Europe PMC] [Abstract]
  52. "Novel mutations in domain I of SCN5A cause Brugada syndrome."Mol. Genet. Metab. 75:317-324(2002) [PubMed] [Europe PMC] [Abstract]
  53. "A novel SCN5A mutation associated with long QT-3: altered inactivation kinetics and channel dysfunction."Physiol. Genomics 10:191-197(2002) [PubMed] [Europe PMC] [Abstract]
  54. "Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia."Science 297:1333-1336(2002) [PubMed] [Europe PMC] [Abstract]
  55. "A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill."Circ. Res. 92:14-22(2003) [PubMed] [Europe PMC] [Abstract]
  56. "Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system."Circ. Res. 92:159-168(2003) [PubMed] [Europe PMC] [Abstract]
  57. "A novel mutation L619F in the cardiac Na+ channel SCN5A associated with long-QT syndrome (LQT3): a role for the I-II linker in inactivation gating."Hum. Mutat. 21:552-552(2003) [PubMed] [Europe PMC] [Abstract]
  58. "A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation."J. Clin. Invest. 111:341-346(2003) [PubMed] [Europe PMC] [Abstract]
  59. "Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A)."J. Clin. Invest. 112:1019-1028(2003) [PubMed] [Europe PMC] [Abstract]
  60. "A trafficking defective, Brugada syndrome-causing SCN5A mutation rescued by drugs."Cardiovasc. Res. 62:53-62(2004) [PubMed] [Europe PMC] [Abstract]
  61. "SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia."Circulation 110:2163-2167(2004) [PubMed] [Europe PMC] [Abstract]
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  64. "Novel Brugada syndrome-causing mutation in ion-conducting pore of cardiac Na+ channel does not affect ion selectivity properties."Acta Physiol. Scand. 185:291-301(2005) [PubMed] [Europe PMC] [Abstract]
  65. "Double SCN5A mutation underlying asymptomatic Brugada syndrome."Heart Rhythm 2:285-292(2005) [PubMed] [Europe PMC] [Abstract]
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  68. "A novel SCN5A mutation, F1344S, identified in a patient with Brugada syndrome and fever-induced ventricular fibrillation."Cardiovasc. Res. 70:521-529(2006) [PubMed] [Europe PMC] [Abstract]
  69. "Compound heterozygous mutations P336L and I1660V in the human cardiac sodium channel associated with the Brugada syndrome."Circulation 114:2026-2033(2006) [PubMed] [Europe PMC] [Abstract]
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  71. "Novel SCN5A gene mutations associated with Brugada syndrome: V95I, A1649V and delF1617."Zhonghua Xin Xue Guan Bing Za Zhi 34:616-619(2006) [PubMed] [Europe PMC] [Abstract]
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  73. "A sodium channel pore mutation causing Brugada syndrome."Heart Rhythm 4:46-53(2007) [PubMed] [Europe PMC] [Abstract]
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  75. "Gene (SCN5A) mutation analysis of a Chinese family with Brugada syndrome."Zhonghua Xin Xue Guan Bing Za Zhi 35:1122-1125(2007) [PubMed] [Europe PMC] [Abstract]
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  77. "Subepicardial phase 0 block and discontinuous transmural conduction underlie right precordial ST-segment elevation by a SCN5A loss-of-function mutation."Am. J. Physiol. 295:H48-H58(2008) [PubMed] [Europe PMC] [Abstract]
  78. "Analyses of a novel SCN5A mutation (C1850S): conduction vs. repolarization disorder hypotheses in the Brugada syndrome."Cardiovasc. Res. 78:494-504(2008) [PubMed] [Europe PMC] [Abstract]
  79. "Lidocaine-induced Brugada syndrome phenotype linked to a novel double mutation in the cardiac sodium channel."Circ. Res. 103:396-404(2008) [PubMed] [Europe PMC] [Abstract]
  80. "Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation."Circulation 117:1927-1935(2008) [PubMed] [Europe PMC] [Abstract]
  81. "Cardiac sodium channel mutation in atrial fibrillation."Heart Rhythm 5:99-105(2008) [PubMed] [Europe PMC] [Abstract]
  82. "A mutation in the sodium channel is responsible for the association of long QT syndrome and familial atrial fibrillation."Heart Rhythm 5:1434-1440(2008) [PubMed] [Europe PMC] [Abstract]
  83. "In utero onset of long QT syndrome with atrioventricular block and spontaneous or lidocaine-induced ventricular tachycardia: compound effects of hERG pore region mutation and SCN5A N-terminus variant."Heart Rhythm 5:1567-1574(2008) [PubMed] [Europe PMC] [Abstract]
  84. "A novel SCN5A gain-of-function mutation M1875T associated with familial atrial fibrillation."J. Am. Coll. Cardiol. 52:1326-1334(2008) [PubMed] [Europe PMC] [Abstract]
  85. "The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome."J. Clin. Invest. 118:2219-2229(2008) [PubMed] [Europe PMC] [Abstract]
  86. "SCN5A variants in Japanese patients with left ventricular noncompaction and arrhythmia."Mol. Genet. Metab. 93:468-474(2008) [PubMed] [Europe PMC] [Abstract]
  87. "Cardiac ion channel gene mutations in sudden infant death syndrome."Pediatr. Res. 64:482-487(2008) [PubMed] [Europe PMC] [Abstract]
  88. "Sodium channel mutation in irritable bowel syndrome: evidence for an ion channelopathy."Am. J. Physiol. 296:G211-G218(2009) [PubMed] [Europe PMC] [Abstract]
  89. "Biophysical characterization of a new SCN5A mutation S1333Y in a SIDS infant linked to long QT syndrome."FEBS Lett. 583:890-896(2009) [PubMed] [Europe PMC] [Abstract]
  90. "Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies."Heart Rhythm 6:341-348(2009) [PubMed] [Europe PMC] [Abstract]
  91. "Distinct functional defect of three novel Brugada syndrome related cardiac sodium channel mutations."J. Biomed. Sci. 16:23-23(2009) [PubMed] [Europe PMC] [Abstract]
  92. "A common SCN5A polymorphism modulates the biophysical defects of SCN5A mutations."Heart Rhythm 8:455-462(2011) [PubMed] [Europe PMC] [Abstract]
  93. "Cardiac sinus node dysfunction due to a new mutation of the SCN5A gene."Arch. Pediatr. 19:837-841(2012) [PubMed] [Europe PMC] [Abstract]