SCN1B
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Sodium channel subunit beta-1 is a protein that in humans is encoded by the SCN1B gene.[3][4]
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][4]
Clinical significance
Mutation in the SCN1B gene are associated with disorders such as Brugada syndrome and GEFS.
See also
References
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- ↑ McClatchey AI, Cannon SC, Slaugenhaupt SA, Gusella JF (Sep 1993). "The cloning and expression of a sodium channel beta 1-subunit cDNA from human brain". Hum Mol Genet. 2 (6): 745–9. doi:10.1093/hmg/2.6.745. PMID 8394762.
- 1 2 "Entrez Gene: SCN1B sodium channel, voltage-gated, type I, beta".
Further reading
- Hartshorne RP, Catterall WA (1984). "The sodium channel from rat brain. Purification and subunit composition.". J. Biol. Chem. 259 (3): 1667–75. 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. 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.
- 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. (Lond.). 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.
- 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. 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. 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. PMID 12677453.
- 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.
- 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.". Pflugers 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.
- 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.
External links
- GeneReviews/NIH/NCBI/UW entry on Brugada syndrome
- SCN1B protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
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