Aliases for SCN1B Gene
External Ids for SCN1B Gene
Previous GeneCards Identifiers for SCN1B Gene
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]
GeneCards Summary for SCN1B Gene
SCN1B (Sodium Voltage-Gated Channel Beta Subunit 1) is a Protein Coding gene. Diseases associated with SCN1B include Epileptic Encephalopathy, Early Infantile, 52 and Generalized Epilepsy With Febrile Seizures Plus, Type 1. Among its related pathways are Activation of cAMP-Dependent PKA and Developmental Biology. Gene Ontology (GO) annotations related to this gene include sodium channel regulator activity and sodium channel inhibitor activity. An important paralog of this gene is SCN3B.
UniProtKB/Swiss-Prot Summary for SCN1B Gene
Regulatory subunit of multiple voltage-gated sodium channel complexes that play important roles in excitable membranes in brain, heart and skeletal muscle. Enhances the presence of the pore-forming alpha subunit at the cell surface and modulates channel gating characteristics and the rate of channel inactivation. Modulates the activity of multiple pore-forming alpha subunits, such as SCN1A, SCN2A, SCN3A, SCN4A, SCN5A and SCN10A.
Isoform 2: Cell adhesion molecule that plays a critical role in neuronal migration and pathfinding during brain development. Stimulates neurite outgrowth (PubMed:21994374). Has no regulatory function on the SCN2A sodium channel complex (PubMed:14622265).
Voltage-gated sodium channels (NaV) are responsible for action potential initiation and propagation in excitable cells, including nerve, muscle, and neuroendocrine cell types. They are also expressed at low levels in non-excitable cells, where their physiological role is unclear.