Biology:SCN1B

Short description: Protein-coding gene in the species Homo sapiens

Generic protein structure example

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 and GEFS.

See also

• Sodium channel

Further reading

• "The sodium channel from rat brain. Purification and subunit composition.". J. Biol. Chem. 259 (3): 1667–75. 1984. doi:10.1016/S0021-9258(17)43460-0. PMID 6319405. 
• "Genomic organization and chromosomal assignment of the human voltage-gated Na+ channel beta 1 subunit gene (SCN1B).". Genomics 23 (3): 628–34. 1995. doi:10.1006/geno.1994.1551. PMID 7851891. 
• "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. doi:10.1016/S0021-9258(17)37325-8. PMID 8125980. 
• "Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.". Nat. Genet. 19 (4): 366–70. 1998. doi:10.1038/1252. PMID 9697698. 
• "Sodium channel beta1 and beta3 subunits associate with neurofascin through their extracellular immunoglobulin-like domain.". J. Cell Biol. 154 (2): 427–34. 2001. doi:10.1083/jcb.200102086. PMID 11470829. 
• "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. doi:10.1113/jphysiol.2001.012691. PMID 11744748. 
• "Structural requirements for interaction of sodium channel beta 1 subunits with ankyrin.". J. Biol. Chem. 277 (29): 26681–8. 2002. doi:10.1074/jbc.M202354200. PMID 11997395. 
• "Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B.". Neurology 58 (9): 1426–9. 2002. doi:10.1212/wnl.58.9.1426. PMID 12011299. 
• "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. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M. 
• "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. doi:10.1523/JNEUROSCI.22-24-10699.2002. PMID 12486163. 
• "Expression and regulation of voltage-gated sodium channel beta1 subunit protein in human gliosis-associated pathologies.". Acta Neuropathol. 105 (5): 515–23. 2003. doi:10.1007/s00401-003-0677-2. PMID 12677453. 
• "A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy.". Neurology 61 (6): 854–6. 2004. doi:10.1212/01.wnl.0000080362.55784.1c. PMID 14504340. 
• "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. doi:10.1046/j.1432-1033.2003.03878.x. PMID 14622265. 
• "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. doi:10.1074/jbc.M400856200. PMID 14761957. 
• "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334. 
• "Identification of functional voltage-gated Na(+) channels in cultured human pulmonary artery smooth muscle cells.". Pflügers Arch. 451 (2): 380–7. 2006. doi:10.1007/s00424-005-1478-3. PMID 16052353. 
• "Computational analysis of the R85C and R85H epilepsy mutations in Na+ channel beta1 subunits.". Neuroscience 147 (4): 1034–46. 2007. doi:10.1016/j.neuroscience.2007.05.010. PMID 17604911. 
• "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. 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)

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