SCN1B

Chr 19ADAR

sodium voltage-gated channel beta subunit 1

Also known as: ATFB13, BRGDA5, DEE52, EIEE52, GEFSP1

NCBI Gene: 6324 ENSG00000105711 UniProt: Q07699 OMIM: 600235

The protein encodes the beta-1 subunit of voltage-gated sodium channels, which modulates the kinetics of channel inactivation during action potential generation and propagation in muscle and neuronal cells. Mutations cause generalized epilepsy with febrile seizures plus, developmental and epileptic encephalopathy, Brugada syndrome, and cardiac conduction defects through both autosomal dominant and autosomal recessive inheritance patterns. The pathogenic mechanism involves gain-of-function effects on sodium channel activity.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

Voltage-gated sodium channels are heteromeric proteins that function in the generation and propagation of action potentials in muscle and neuronal cells. They are composed of one alpha and two beta subunits, where the alpha subunit provides channel activity and the beta-1 subunit modulates the kinetics of channel inactivation. This gene encodes a sodium channel beta-1 subunit. Mutations in this gene result in generalized epilepsy with febrile seizures plus, Brugada syndrome 5, and defects in cardiac conduction. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]

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