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Sodium Channel Voltage Gated Type IV Alpha (SCN4a)

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HYKPP; HYPP; NAC1A; Na(V)1.4; Nav1.4; SkM1; Sodium channel protein skeletal muscle subunit alpha; Voltage-gated sodium channel subunit alpha Nav1.4

Sodium Channel Voltage Gated Type IV Alpha (SCN4a)
CCC L094
HGNC 10591
MGI 98250
PubMed 23958773
RGD 3636
UniProt P35499
Wiki SCN4A
The 1.4 voltage-gated sodium channel is encoded by the SCN4A gene. Mutations in the gene are associated with hypokalemic periodic paralysis, hyperkalemic periodic paralysis, paramyotonia congenita, and potassium-aggravated myotonia. Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Sodium Channel Voltage Gated Type IV Alpha (SCN4a) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Sodium Channel Voltage Gated Type IV Alpha (SCN4a) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Sodium Channel Voltage Gated Type IV Alpha (SCN4a) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Sodium Channel Voltage Gated Type IV Alpha (SCN4a) CLIA Kit Customized Service Offer
n/a ELISA Kit for Sodium Channel Voltage Gated Type IV Alpha (SCN4a) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Sodium Channel Voltage Gated Type IV Alpha (SCN4a) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Sodium Channel Voltage Gated Type IV Alpha (SCN4a) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Sodium Channel Voltage Gated Type IV Alpha (SCN4a) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Sodium Channel Voltage Gated Type IV Alpha (SCN4a) CLIA Kit Customized Service Offer
n/a ELISA Kit for Sodium Channel Voltage Gated Type IV Alpha (SCN4a) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Sodium Channel Voltage Gated Type IV Alpha (SCN4a) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Sodium Channel Voltage Gated Type IV Alpha (SCN4a) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Sodium Channel Voltage Gated Type IV Alpha (SCN4a) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Sodium Channel Voltage Gated Type IV Alpha (SCN4a) CLIA Kit Customized Service Offer
n/a ELISA Kit for Sodium Channel Voltage Gated Type IV Alpha (SCN4a) ELISA Kit Customized Service Offer
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  2. "Sequence and genomic structure of the human adult skeletal muscle sodium channel alpha subunit gene on 17q."Biochem. Biophys. Res. Commun. 182:794-801(1992) [PubMed] [Europe PMC] [Abstract]
  3. "Myasthenic syndrome caused by mutation of the SCN4A sodium channel."Proc. Natl. Acad. Sci. U.S.A. 100:7377-7382(2003) [PubMed] [Europe PMC] [Abstract]
  4. "The genomic structure of the human skeletal muscle sodium channel gene."Hum. Mol. Genet. 1:521-527(1992) [PubMed] [Europe PMC] [Abstract]
  5. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage." Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
  6. "Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita."Cell 68:769-774(1992) [PubMed] [Europe PMC] [Abstract]
  7. "Identification of a mutation in the gene causing hyperkalemic periodic paralysis."Cell 67:1021-1027(1991) [PubMed] [Europe PMC] [Abstract]
  8. "A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis."Nature 354:387-389(1991) [PubMed] [Europe PMC] [Abstract]
  9. "Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel."Nat. Genet. 2:148-152(1992) [PubMed] [Europe PMC] [Abstract]
  10. "Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita."Neuron 8:891-897(1992) [PubMed] [Europe PMC] [Abstract]
  11. "Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis."Ann. Neurol. 33:300-307(1993) [PubMed] [Europe PMC] [Abstract]
  12. "Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker."J. Physiol. (Lond.) 470:13-22(1993) [PubMed] [Europe PMC] [Abstract]
  13. "A novel SCN4A mutation causing myotonia aggravated by cold and potassium."Hum. Mol. Genet. 2:1349-1353(1993) [PubMed] [Europe PMC] [Abstract]
  14. "Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis."Neurology 44:1500-1503(1994) [PubMed] [Europe PMC] [Abstract]
  15. "Hyperkalemic periodic paralysis with cardiac dysrhythmia: a novel sodium channel mutation?"Ann. Neurol. 37:408-411(1995) [PubMed] [Europe PMC] [Abstract]
  16. "Paramyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (Val1293Ile)."NeuroReport 6:2001-2004(1995) [PubMed] [Europe PMC] [Abstract]
  17. "A novel muscle sodium channel mutation causes painful congenital myotonia."Ann. Neurol. 42:811-814(1997) [PubMed] [Europe PMC] [Abstract]
  18. "A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg."Arch. Neurol. 56:692-696(1999) [PubMed] [Europe PMC] [Abstract]
  19. "Functional consequences of a domain 1/S6 segment sodium channel mutation associated with painful congenital myotonia."FEBS Lett. 448:231-234(1999) [PubMed] [Europe PMC] [Abstract]
  20. "A novel sodium channel mutation in a family with hypokalemic periodic paralysis."Neurology 53:1932-1936(1999) [PubMed] [Europe PMC] [Abstract]
  21. "Clinical, electrophysiological, and molecular genetic studies in a new family with paramyotonia congenita."J. Neurol. Neurosurg. Psych. 68:504-507(2000) [PubMed] [Europe PMC] [Abstract]
  22. "Temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis."Neurology 54:2179-2181(2000) [PubMed] [Europe PMC] [Abstract]
  23. "Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current."Proc. Natl. Acad. Sci. U.S.A. 97:9549-9554(2000) [PubMed] [Europe PMC] [Abstract]
  24. "Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis."Ann. Neurol. 50:417-420(2001) [PubMed] [Europe PMC] [Abstract]
  25. "Sodium channel gene mutations in hypokalemic periodic paralysis: an uncommon cause in the UK."Neurology 57:1323-1325(2001) [PubMed] [Europe PMC] [Abstract]
  26. "New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis."Neurology 63:2120-2127(2004) [PubMed] [Europe PMC] [Abstract]
  27. "A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivation."J. Physiol. (Lond.) 565:415-427(2005) [PubMed] [Europe PMC] [Abstract]
  28. "Cold extends electromyography distinction between ion channel mutations causing myotonia."Ann. Neurol. 60:356-365(2006) [PubMed] [Europe PMC] [Abstract]
  29. "Autosomal dominant monosymptomatic myotonia permanens."Neurology 67:153-155(2006) [PubMed] [Europe PMC] [Abstract]
  30. "The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis."J. Korean Med. Sci. 22:946-951(2007) [PubMed] [Europe PMC] [Abstract]
  31. "A large German kindred with cold-aggravated myotonia and a heterozygous A1481D mutation in the SCN4A gene."Muscle Nerve 35:599-606(2007) [PubMed] [Europe PMC] [Abstract]
  32. "A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians."Neurology 69:1937-1941(2007) [PubMed] [Europe PMC] [Abstract]
  33. "Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene."Am. J. Med. Genet. A 146:380-383(2008) [PubMed] [Europe PMC] [Abstract]
  34. "Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis."Cell. Mol. Neurobiol. 28:653-661(2008) [PubMed] [Europe PMC] [Abstract]
  35. "Differential effects of paramyotonia congenita mutations F1473S and F1705I on sodium channel gating."Channels 2:39-50(2008) [PubMed] [Europe PMC] [Abstract]
  36. "What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed."Neurology 70:50-53(2008) [PubMed] [Europe PMC] [Abstract]
  37. "A novel dominant mutation of the Nav1.4 alpha-subunit domain I leading to sodium channel myotonia."Neurology 71:1669-1675(2008) [PubMed] [Europe PMC] [Abstract]
  38. "Clinical diversity of SCN4A-mutation-associated skeletal muscle sodium channelopathy."J. Clin. Neurol. 5:186-191(2009) [PubMed] [Europe PMC] [Abstract]
  39. "Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians."Neuromuscul. Disord. 19:330-334(2009) [PubMed] [Europe PMC] [Abstract]
  40. "Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis."Neurology 72:1544-1547(2009) [PubMed] [Europe PMC] [Abstract]
  41. "Tubular aggregates in paralysis periodica paramyotonica with T704M mutation of SCN4A."Neuropathology 29:579-584(2009) [PubMed] [Europe PMC] [Abstract]
  42. "Both hypokalaemic and normokalaemic periodic paralysis in different members of a single family with novel R1129Q mutation in SCN4A gene."J. Neurol. Neurosurg. Psych. 81:703-704(2010) [PubMed] [Europe PMC] [Abstract]
  43. "Hypokalemic periodic paralysis due to the SCN4A R672H mutation in a Turkish family."Turk. J. Pediatr. 52:409-410(2010) [PubMed] [Europe PMC] [Abstract]