Gene Symbol | SCN1B |
Entrez Gene ID | 6324 |
Full Name | sodium voltage-gated channel beta subunit 1 |
Synonyms | ATFB13,BRGDA5,EIEE52,GEFSP1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Epilepsy, generalized, with febrile seizures plus, type 1, 604233 (3); Brugada syndrome 5, 612838 (3); Cardiac conduction defect, nonspecific, 612838 (3); Atrial fibrillation, familial, 13, 615377 (3); Epileptic encephalopathy, early infantile, 52, 617350 (3) |