Nav1.4

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The correct title of this article is Nav1.4. It features superscript or subscript characters that are substituted or omitted because of technical limitations.


Sodium channel, voltage-gated, type IV, alpha subunit
PDB rendering based on 1byy.
Available structures: 1byy
Identifiers
Symbol(s) SCN4A; HYKPP; HYPP; NAC1A; Na(V)1.4; Nav1.4; SkM1
External IDs OMIM: 603967 MGI: 98250 HomoloGene: 283
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 6329 110880
Ensembl ENSG00000007314 ENSMUSG00000001027
Uniprot P35499 n/a
Refseq NM_000334 (mRNA)
NP_000325 (protein)		 NM_133199 (mRNA)
NP_573462 (protein)
Location Chr 17: 59.37 - 59.4 Mb Chr 11: 106.14 - 106.17 Mb
Pubmed search [1] [2]

Sodium channel, voltage-gated, type IV, alpha subunit, also known as SCN4A, is a human gene.[1]

The Nav1.4 sodium ion channel protein is encoded by the SCN4A gene. Mutations in the gene are associated with 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.[1]

[edit] References

  1. ^ a b Entrez Gene: SCN4A sodium channel, voltage-gated, type IV, alpha subunit.

[edit] Further reading

  • Ackerman MJ, Clapham DE (1997). "Ion channels--basic science and clinical disease.". N. Engl. J. Med. 336 (22): 1575–86. PMID 9164815. 
  • Catterall WA, Goldin AL, Waxman SG (2006). "International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels.". Pharmacol. Rev. 57 (4): 397–409. doi:10.1124/pr.57.4.4. PMID 16382098. 
  • Wang JZ, Rojas CV, Zhou JH, et al. (1992). "Sequence and genomic structure of the human adult skeletal muscle sodium channel alpha subunit gene on 17q.". Biochem. Biophys. Res. Commun. 182 (2): 794–801. PMID 1310396. 
  • Ptacek LJ, Tawil R, Griggs RC, et al. (1992). "Linkage of atypical myotonia congenita to a sodium channel locus.". Neurology 42 (2): 431–3. PMID 1310531. 
  • McClatchey AI, Van den Bergh P, Pericak-Vance MA, et al. (1992). "Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita.". Cell 68 (4): 769–74. PMID 1310898. 
  • George AL, Komisarof J, Kallen RG, Barchi RL (1992). "Primary structure of the adult human skeletal muscle voltage-dependent sodium channel.". Ann. Neurol. 31 (2): 131–7. doi:10.1002/ana.410310203. PMID 1315496. 
  • Ptácek LJ, George AL, Barchi RL, et al. (1992). "Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita.". Neuron 8 (5): 891–7. PMID 1316765. 
  • McClatchey AI, McKenna-Yasek D, Cros D, et al. (1993). "Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel.". Nat. Genet. 2 (2): 148–52. doi:10.1038/ng1092-148. PMID 1338909. 
  • McClatchey AI, Lin CS, Wang J, et al. (1993). "The genomic structure of the human skeletal muscle sodium channel gene.". Hum. Mol. Genet. 1 (7): 521–7. PMID 1339144. 
  • Ptacek LJ, Trimmer JS, Agnew WS, et al. (1991). "Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus.". Am. J. Hum. Genet. 49 (4): 851–4. PMID 1654742. 
  • Rojas CV, Wang JZ, Schwartz LS, et al. (1992). "A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis.". Nature 354 (6352): 387–9. doi:10.1038/354387a0. PMID 1659668. 
  • Ptácek LJ, George AL, Griggs RC, et al. (1992). "Identification of a mutation in the gene causing hyperkalemic periodic paralysis.". Cell 67 (5): 1021–7. PMID 1659948. 
  • George AL, Ledbetter DH, Kallen RG, Barchi RL (1991). "Assignment of a human skeletal muscle sodium channel alpha-subunit gene (SCN4A) to 17q23.1-25.3.". Genomics 9 (3): 555–6. PMID 1851726. 
  • Fontaine B, Khurana TS, Hoffman EP, et al. (1990). "Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene.". Science 250 (4983): 1000–2. PMID 2173143. 
  • Plassart E, Reboul J, Rime CS, et al. (1994). "Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations.". Eur. J. Hum. Genet. 2 (2): 110–24. PMID 8044656. 
  • Ptáĉek LJ, Tawil R, Griggs RC, et al. (1994). "Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis.". Neurology 44 (8): 1500–3. PMID 8058156. 
  • Heine R, Pika U, Lehmann-Horn F (1993). "A novel SCN4A mutation causing myotonia aggravated by cold and potassium.". Hum. Mol. Genet. 2 (9): 1349–53. PMID 8242056. 
  • Lerche H, Heine R, Pika U, et al. (1994). "Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker.". J. Physiol. (Lond.) 470: 13–22. PMID 8308722. 
  • George AL, Iyer GS, Kleinfield R, et al. (1993). "Genomic organization of the human skeletal muscle sodium channel gene.". Genomics 15 (3): 598–606. doi:10.1006/geno.1993.1113. PMID 8385647. 
  • Ptacek LJ, Gouw L, Kwieciński H, et al. (1993). "Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis.". Ann. Neurol. 33 (3): 300–7. doi:10.1002/ana.410330312. PMID 8388676. 
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v • d • e
Membrane transport protein: ion channels
Ca2+: Calcium channel
Na+: Sodium channel
Navα (1.1, 1.2, 1.3, 1.4, 1.5, 1.6, 1.7, 1.9, 7A) • Navβ (1, 2, 3, 4) • Epithelial sodium channel
K+: Potassium channel
Cl-: Chloride channel
Porin
Cations: TRP
TRPA (1) • TRPC (1, 2, 3, 4, 4AP, 5, 6, 7) • TRPM (1, 2, 3, 4, 5, 6, 7, 8) • TRPML (Mucolipin-1) • TRPP (1, 2) • TRPV (1, 2, 3, 4, 5, 6)
Other/general