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 Channel, Voltage Gated, Type I Beta Subunit) is a Protein Coding gene. Diseases associated with SCN1B include generalized epilepsy with febrile seizures plus and epilepsy, generalized, with febrile seizures plus, type 1. Among its related pathways are Developmental Biology and Activation of cAMP-Dependent PKA. 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 for SCN1B Gene
Crucial in the assembly, expression, and functional modulation of the heterotrimeric complex of the sodium channel. The subunit beta-1 can modulate multiple alpha subunit isoforms from brain, skeletal muscle, and heart. Its association with neurofascin may target the sodium channels to the nodes of Ranvier of developing axons and retain these channels at the nodes in mature myelinated axons.
Isoform 2: Cell adhesion molecule that plays a critical role in neuronal migration and pathfinding during brain development. Stimulates neurite outgrowth.
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.