Biology:SCN3B
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Sodium channel subunit beta-3 is a protein that in humans is encoded by the SCN3B gene.[1][2] Two alternatively spliced variants, encoding the same protein, have been identified.
Function
Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel beta subunit gene family, and influences the inactivation kinetics of the sodium channel.[2]
Clinical significance
Mutations in the gene are associated with abnormal cardiac electrophysiology.[3][4]
See also
References
- ↑ "β3: An additional auxiliary subunit of the voltage-sensitive sodium channel that modulates channel gating with distinct kinetics". Proc Natl Acad Sci U S A 97 (5): 2308–13. Apr 2000. doi:10.1073/pnas.030362197. PMID 10688874. Bibcode: 2000PNAS...97.2308M.
- ↑ 2.0 2.1 "Entrez Gene: SCN3B sodium channel, voltage-gated, type III, beta". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=55800.
- ↑ "Scn3b knockout mice exhibit abnormal ventricular electrophysiological properties". Prog. Biophys. Mol. Biol. 98 (2–3): 251–66. 2008. doi:10.1016/j.pbiomolbio.2009.01.005. PMID 19351516.
- ↑ "Scn3b knockout mice exhibit abnormal sino-atrial and cardiac conduction properties". Acta Physiol (Oxf) 198 (1): 47–59. January 2010. doi:10.1111/j.1748-1716.2009.02048.x. PMID 19796257.
Further reading
- "Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain". DNA Res. 6 (5): 329–36. 2000. doi:10.1093/dnares/6.5.329. PMID 10574461.
- "DNA Cloning Using In Vitro Site-Specific Recombination". Genome Res. 10 (11): 1788–95. 2001. doi:10.1101/gr.143000. PMID 11076863.
- "Tissue distribution and functional expression of the human voltage-gated sodium channel beta3 subunit". Pflügers Arch. 441 (4): 481–8. 2001. doi:10.1007/s004240000449. PMID 11212211.
- "Toward a Catalog of Human Genes and Proteins: Sequencing and Analysis of 500 Novel Complete Protein Coding Human cDNAs". Genome Res. 11 (3): 422–35. 2001. doi:10.1101/gr.GR1547R. PMID 11230166.
- "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Rep. 1 (3): 287–92. 2001. doi:10.1093/embo-reports/kvd058. PMID 11256614.
- "Sodium channel β1 and β3 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.
- "Functional modulation of human brain Nav1.3 sodium channels, expressed in mammalian cells, by auxiliary beta 1, beta 2 and beta 3 subunits". Neuroscience 114 (3): 745–53. 2002. doi:10.1016/S0306-4522(02)00242-7. PMID 12220575.
- "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.
- "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. 2004. doi:10.1038/ng1285. PMID 14702039.
- "Expression of the sodium channel beta3 subunit in injured human sensory neurons". NeuroReport 15 (10): 1629–32. 2004. doi:10.1097/01.wnr.0000134927.02776.ae. PMID 15232296.
- "Identification of SCN3B as a novel p53-inducible proapoptotic gene". Oncogene 23 (47): 7791–8. 2004. doi:10.1038/sj.onc.1208067. PMID 15334053.
- "Sequence Comparison of Human and Mouse Genes Reveals a Homologous Block Structure in the Promoter Regions". Genome Res. 14 (9): 1711–8. 2004. doi:10.1101/gr.2435604. PMID 15342556.
- "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.
- "From ORFeome to Biology: A Functional Genomics Pipeline". Genome Res. 14 (10B): 2136–44. 2004. doi:10.1101/gr.2576704. PMID 15489336.
- "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. 2006. doi:10.1101/gr.4039406. PMID 16344560.
- "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415–8. 2006. doi:10.1093/nar/gkj139. PMID 16381901.
- "Scn3b knockout mice exhibit abnormal ventricular electrophysiological properties". Prog Biophys Mol Biol 98 (2–3): 251–66. 2008. doi:10.1016/j.pbiomolbio.2009.01.005. PMID 19351516.
External links
- GeneReviews/NIH/NCBI/UW entry on Brugada syndrome
- SCNB3+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.
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