SCN1B explained

Sodium channel subunit beta-1 is a protein that in humans is encoded by the SCN1B gene.^{[1] [2]}

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 . The sodium channel from rat brain. Purification and subunit composition. . J. Biol. Chem. . 259 . 3 . 1667–75 . 1984 . 10.1016/S0021-9258(17)43460-0 . 6319405 . free .
• Makita N, Sloan-Brown K, Weghuis DO, etal . Genomic organization and chromosomal assignment of the human voltage-gated Na+ channel beta 1 subunit gene (SCN1B). . Genomics . 23 . 3 . 628–34 . 1995 . 7851891 . 10.1006/geno.1994.1551 .
• Makita N, Bennett PB, George AL . 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 . 1994 . 10.1016/S0021-9258(17)37325-8 . 8125980 . free .
• Wallace RH, Wang DW, Singh R, etal . Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. . Nat. Genet. . 19 . 4 . 366–70 . 1998 . 9697698 . 10.1038/1252 . 20962841 .
• Ratcliffe CF, Westenbroek RE, Curtis R, Catterall WA . Sodium channel beta1 and beta3 subunits associate with neurofascin through their extracellular immunoglobulin-like domain. . J. Cell Biol. . 154 . 2 . 427–34 . 2001 . 11470829 . 10.1083/jcb.200102086 . 2150779 .
• Fahmi AI, Patel M, Stevens EB, etal . 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 . 2002 . 11744748 . 10.1113/jphysiol.2001.012691 . 2278985 .
• Malhotra JD, Koopmann MC, Kazen-Gillespie KA, etal . Structural requirements for interaction of sodium channel beta 1 subunits with ankyrin. . J. Biol. Chem. . 277 . 29 . 26681–8 . 2002 . 11997395 . 10.1074/jbc.M202354200 . free .
• Wallace RH, Scheffer IE, Parasivam G, etal . Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. . Neurology . 58 . 9 . 1426–9 . 2002 . 12011299 . 10.1212/wnl.58.9.1426. 9403148 .
• Strausberg RL, Feingold EA, Grouse LH, etal . 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 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Meadows LS, Malhotra J, Loukas A, etal . 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 . 2003 . 12486163 . 10.1523/JNEUROSCI.22-24-10699.2002 . 6758463.
• Aronica E, Troost D, Rozemuller AJ, etal . Expression and regulation of voltage-gated sodium channel beta1 subunit protein in human gliosis-associated pathologies. . Acta Neuropathol. . 105 . 5 . 515–23 . 2003 . 12677453 . 10.1007/s00401-003-0677-2 . 2027.42/42208 . 30847819 . free .
• Audenaert D, Claes L, Ceulemans B, etal . A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy. . Neurology . 61 . 6 . 854–6 . 2004 . 14504340 . 10.1212/01.wnl.0000080362.55784.1c. 20308172 .
• Qin N, D'Andrea MR, Lubin ML, etal . 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 . 2004 . 14622265 . 10.1046/j.1432-1033.2003.03878.x .
• McEwen DP, Meadows LS, Chen C, etal . 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 . 2004 . 14761957 . 10.1074/jbc.M400856200 . free .
• Gerhard DS, Wagner L, Feingold EA, etal . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
• Platoshyn O, Remillard CV, Fantozzi I, etal . Identification of functional voltage-gated Na(+) channels in cultured human pulmonary artery smooth muscle cells. . Pflügers Arch. . 451 . 2 . 380–7 . 2006 . 16052353 . 10.1007/s00424-005-1478-3 . 1351366 .
• Thomas EA, Xu R, Petrou S . Computational analysis of the R85C and R85H epilepsy mutations in Na+ channel beta1 subunits. . Neuroscience . 147 . 4 . 1034–46 . 2007 . 17604911 . 10.1016/j.neuroscience.2007.05.010 . 24583074 .
• Xu R, Thomas EA, Gazina EV, etal . 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 . 2007 . 17629415 . 10.1016/j.neuroscience.2007.05.038 . 36136731 .

External links

• GeneReviews/NIH/NCBI/UW entry on Brugada syndrome

Notes and References

1. McClatchey AI, Cannon SC, Slaugenhaupt SA, Gusella JF . The cloning and expression of a sodium channel beta 1-subunit cDNA from human brain . Hum Mol Genet . 2 . 6 . 745–9 . Sep 1993 . 8394762 . 10.1093/hmg/2.6.745 .
2. Web site: Entrez Gene: SCN1B sodium channel, voltage-gated, type I, beta.