Species Human Entrez 6324 | Human Mouse Ensembl ENSG00000105711 | |
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Aliases SCN1B, ATFB13, BRGDA5, GEFSP1, sodium voltage-gated channel beta subunit 1 External IDs MGI: 98247 HomoloGene: 810 GeneCards: SCN1B | ||
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.
References
SCN1B Wikipedia(Text) CC BY-SA