SCN1B
Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). 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
[edit | edit source]Mutation in the SCN1B gene are associated with disorders such as Brugada syndrome, Dravet Syndrome, and GEFS.
See also
[edit | edit source]References
[edit | edit source]Further reading
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External links
[edit | edit source]- GeneReviews/NIH/NCBI/UW entry on Brugada syndrome
- SCN1B+protein,+human at the U.S. 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.