SCN3B

From Wikipedia, the free encyclopedia
Sodium channel, voltage-gated, type III, beta subunit
Identifiers
SymbolsSCN3B; HSA243396; SCNB3
External IDsOMIM: 608214 MGI: 1918882 HomoloGene: 10176 ChEMBL: 5488 GeneCards: SCN3B Gene
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez55800235281
EnsemblENSG00000166257ENSMUSG00000049281
UniProtQ9NY72Q8BHK2
RefSeq (mRNA)NM_001040151NM_001083917
RefSeq (protein)NP_001035241NP_001077386
Location (UCSC)Chr 11:
123.5 – 123.53 Mb
Chr 9:
40.27 – 40.29 Mb
PubMed search

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

  1. Morgan K, Stevens EB, Shah B, Cox PJ, Dixon AK, Lee K, Pinnock RD, Hughes J, Richardson PJ, Mizuguchi K, Jackson AP (Apr 2000). "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. doi:10.1073/pnas.030362197. PMC 15797. PMID 10688874. 
  2. 2.0 2.1 "Entrez Gene: SCN3B sodium channel, voltage-gated, type III, beta". 
  3. Hakim P, Gurung IS, Pedersen TH, Thresher R, Brice N, Lawrence J, Grace AA, Huang CL (2008). "Scn3b knockout mice exhibit abnormal ventricular electrophysiological properties". Prog. Biophys. Mol. Biol. 98 (2-3): 251–66. doi:10.1016/j.pbiomolbio.2009.01.005. PMC 2764399. PMID 19351516. 
  4. Hakim P, Brice N, Thresher R, Lawrence J, Zhang Y, Jackson AP, Grace AA, Huang CL (January 2010). "Scn3b knockout mice exhibit abnormal sino-atrial and cardiac conduction properties". Acta Physiol (Oxf) 198 (1): 47–59. doi:10.1111/j.1748-1716.2009.02048.x. PMID 19796257. 


Further reading

External links

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

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