SCN1B

Template:Short description Sodium channel subunit beta-1 is a protein that in humans is encoded by the SCN1B gene.

Voltage-gated sodium channels are essential for the generation and propagation of action potentials in striated muscle and neuronal tissues. Biochemically, they consist of a large alpha subunit and 1 or 2 smaller beta subunits, such as SCN1B. The alpha subunit alone can exhibit all the functional attributes of a voltage-gated Na+ channel, but requires a beta-1 subunit for normal inactivation kinetics.[supplied by OMIM]

Clinical significance

Mutation in the SCN1B gene are associated with disorders such as Brugada syndrome, Dravet Syndrome, and GEFS.

See also

• Sodium channel

Further reading

• Hartshorne RP, Catterall WA (1984). "The sodium channel from rat brain. Purification and subunit composition". J. Biol. Chem. 259 (3): 1667–75. doi:10.1016/S0021-9258(17)43460-0. PMID 6319405.
• Makita N, Sloan-Brown K, Weghuis DO, et al. (1995). "Genomic organization and chromosomal assignment of the human voltage-gated Na+ channel beta 1 subunit gene (SCN1B)". Genomics. 23 (3): 628–34. doi:10.1006/geno.1994.1551. PMID 7851891.
• Makita N, Bennett PB, George AL (1994). "Voltage-gated Na+ channel beta 1 subunit mRNA expressed in adult human skeletal muscle, heart, and brain is encoded by a single gene". J. Biol. Chem. 269 (10): 7571–8. doi:10.1016/S0021-9258(17)37325-8. PMID 8125980.
• Wallace RH, Wang DW, Singh R, et al. (1998). "Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B". Nat. Genet. 19 (4): 366–70. doi:10.1038/1252. PMID 9697698. S2CID 20962841.
• Ratcliffe CF, Westenbroek RE, Curtis R, Catterall WA (2001). "Sodium channel beta1 and beta3 subunits associate with neurofascin through their extracellular immunoglobulin-like domain". J. Cell Biol. 154 (2): 427–34. doi:10.1083/jcb.200102086. PMC 2150779. PMID 11470829.
• Fahmi AI, Patel M, Stevens EB, et al. (2002). "The sodium channel beta-subunit SCN3b modulates the kinetics of SCN5a and is expressed heterogeneously in sheep heart". J. Physiol. 537 (Pt 3): 693–700. doi:10.1113/jphysiol.2001.012691. PMC 2278985. PMID 11744748.
• Malhotra JD, Koopmann MC, Kazen-Gillespie KA, et al. (2002). "Structural requirements for interaction of sodium channel beta 1 subunits with ankyrin". J. Biol. Chem. 277 (29): 26681–8. doi:10.1074/jbc.M202354200. PMID 11997395.
• Wallace RH, Scheffer IE, Parasivam G, et al. (2002). "Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B". Neurology. 58 (9): 1426–9. doi:10.1212/wnl.58.9.1426. PMID 12011299. S2CID 9403148.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Meadows LS, Malhotra J, Loukas A, et al. (2003). "Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1". J. Neurosci. 22 (24): 10699–709. doi:10.1523/JNEUROSCI.22-24-10699.2002. PMC 6758463. PMID 12486163.
• Aronica E, Troost D, Rozemuller AJ, et al. (2003). "Expression and regulation of voltage-gated sodium channel beta1 subunit protein in human gliosis-associated pathologies". Acta Neuropathol. 105 (5): 515–23. doi:10.1007/s00401-003-0677-2. hdl:2027.42/42208. PMID 12677453. S2CID 30847819.
• Audenaert D, Claes L, Ceulemans B, et al. (2004). "A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy". Neurology. 61 (6): 854–6. doi:10.1212/01.wnl.0000080362.55784.1c. PMID 14504340. S2CID 20308172.
• Qin N, D'Andrea MR, Lubin ML, et al. (2004). "Molecular cloning and functional expression of the human sodium channel beta1B subunit, a novel splicing variant of the beta1 subunit". Eur. J. Biochem. 270 (23): 4762–70. doi:10.1046/j.1432-1033.2003.03878.x. PMID 14622265.
• McEwen DP, Meadows LS, Chen C, et al. (2004). "Sodium channel beta1 subunit-mediated modulation of Nav1.2 currents and cell surface density is dependent on interactions with contactin and ankyrin". J. Biol. Chem. 279 (16): 16044–9. doi:10.1074/jbc.M400856200. PMID 14761957.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Platoshyn O, Remillard CV, Fantozzi I, et al. (2006). "Identification of functional voltage-gated Na(+) channels in cultured human pulmonary artery smooth muscle cells". Pflügers Arch. 451 (2): 380–7. doi:10.1007/s00424-005-1478-3. PMC 1351366. PMID 16052353.
• Thomas EA, Xu R, Petrou S (2007). "Computational analysis of the R85C and R85H epilepsy mutations in Na+ channel beta1 subunits". Neuroscience. 147 (4): 1034–46. doi:10.1016/j.neuroscience.2007.05.010. PMID 17604911. S2CID 24583074.
• Xu R, Thomas EA, Gazina EV, et al. (2007). "Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function". Neuroscience. 148 (1): 164–74. doi:10.1016/j.neuroscience.2007.05.038. PMID 17629415. S2CID 36136731.

External links

• GeneReviews/NIH/NCBI/UW entry on Brugada syndrome
• SCN1B+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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