Nav1.1
| Sodium channel, voltage-gated, type I, alpha subunit | |||||||||||||
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File:PBB Protein SCN1A image.jpg PDB rendering based on 1byy. | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | SCN1A ; FEB3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SMEI | ||||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 21375 | ||||||||||||
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| File:PBB GE SCN1A 210383 at tn.png | |||||||||||||
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| Species | Human | Mouse | |||||||||||
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Nav1.1, also known as the sodium channel, voltage-gated, type I, alpha subunit (SCN1A), is a human gene.[1]
The vertebrate sodium channel is a voltage-gated ion channel essential for the generation and propagation of action potentials, chiefly in nerve and muscle. Voltage-sensitive sodium channels are heteromeric complexes consisting of a large central pore-forming glycosylated alpha subunit and 2 smaller auxiliary beta subunits. Functional studies have indicated that the transmembrane alpha subunit of the brain sodium channels is sufficient for expression of functional sodium channels (Goldin et al., 1986; Isom, 2002). Brain sodium channel alpha subunits form a gene subfamily with several structurally distinct isoforms clustering on chromosome 2, types I, II (SCN2A1, MIM 182390; SCN2A2, MIM 601219); and III (SCN3A, MIM 182391). There are also several distinct sodium channel alpha subunit isoforms in skeletal and cardiac muscle (SCN4A, MIM 603967; SCN5A, MIM 600163; SCN7A, MIM 182392).[supplied by OMIM][1]
See also
References
Further reading
- Lerche H, Jurkat-Rott K, Lehmann-Horn F (2001). "Ion channels and epilepsy". Am. J. Med. Genet. 106 (2): 146–59. doi:10.1002/ajmg.1582. PMID 11579435.
- Isom LL (2002). "The role of sodium channels in cell adhesion". Front. Biosci. 7: 12–23. PMID 11779698.
- Kanai K, Hirose S, Oguni H; et al. (2005). "Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity". Neurology. 63 (2): 329–34. PMID 15277629.
- Oguni H, Hayashi K, Osawa M; et al. (2004). "Severe myoclonic epilepsy in infancy: clinical analysis and relation to SCN1A mutations in a Japanese cohort". Advances in neurology. 95: 103–17. PMID 15508916.
- Mulley JC, Scheffer IE, Petrou S; et al. (2006). "SCN1A mutations and epilepsy". Hum. Mutat. 25 (6): 535–42. doi:10.1002/humu.20178. PMID 15880351.
- 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.
- Lu CM, Han J, Rado TA, Brown GB (1992). "Differential expression of two sodium channel subtypes in human brain". FEBS Lett. 303 (1): 53–8. PMID 1317301.
- Goldin AL, Snutch T, Lübbert H; et al. (1986). "Messenger RNA coding for only the alpha subunit of the rat brain Na channel is sufficient for expression of functional channels in Xenopus oocytes". Proc. Natl. Acad. Sci. U.S.A. 83 (19): 7503–7. PMID 2429308.
- Malo MS, Blanchard BJ, Andresen JM; et al. (1994). "Localization of a putative human brain sodium channel gene (SCN1A) to chromosome band 2q24". Cytogenet. Cell Genet. 67 (3): 178–86. PMID 8062593.
- Peiffer A, Thompson J, Charlier C; et al. (1999). "A locus for febrile seizures (FEB3) maps to chromosome 2q23-24". Ann. Neurol. 46 (4): 671–8. PMID 10514109.
- Escayg A, MacDonald BT, Meisler MH; et al. (2000). "Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2". Nat. Genet. 24 (4): 343–5. doi:10.1038/74159. PMID 10742094.
- Wallace RH, Scheffer IE, Barnett S; et al. (2001). "Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus". Am. J. Hum. Genet. 68 (4): 859–65. PMID 11254444.
- Escayg A, Heils A, MacDonald BT; et al. (2001). "A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy". Am. J. Hum. Genet. 68 (4): 866–73. PMID 11254445.
- Whitaker WR, Faull RL, Waldvogel HJ; et al. (2001). "Comparative distribution of voltage-gated sodium channel proteins in human brain". Brain Res. Mol. Brain Res. 88 (1–2): 37–53. PMID 11295230.
- Claes L, Del-Favero J, Ceulemans B; et al. (2001). "De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy". Am. J. Hum. Genet. 68 (6): 1327–32. PMID 11359211.
- Sugawara T, Mazaki-Miyazaki E, Ito M; et al. (2001). "Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures". Neurology. 57 (4): 703–5. PMID 11524484.
- Abou-Khalil B, Ge Q, Desai R; et al. (2003). "Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation". Neurology. 57 (12): 2265–72. PMID 11756608.
- Ito M, Nagafuji H, Okazawa H; et al. (2002). "Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A". Epilepsy Res. 48 (1–2): 15–23. PMID 11823106.
External links
- SCN1A+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
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