SCN1B

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Identifiers
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External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
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RefSeq (mRNA)

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RefSeq (protein)

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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][2]

Clinical significance

Mutation in the SCN1B gene are associated with disorders such as Brugada syndrome and GEFS.

See also

References

  1. 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.
  2. 2.0 2.1 "Entrez Gene: SCN1B sodium channel, voltage-gated, type I, beta".

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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