Aliases for SCN1B Gene
- Sodium Channel, Voltage Gated, Type I Beta Subunit 2 3
- Sodium Channel, Voltage-Gated, Type I, Beta Subunit 2 3
- ATFB13 3 6
- BRGDA5 3 6
- GEFSP1 3 6
- Sodium Channel, Voltage-Gated, Type I, Beta Polypeptide 2
- Sodium Channel, Voltage-Gated, Type I, Beta 2
- Sodium Channel Beta-1 Subunit 3
- Sodium Channel Subunit Beta-1 3
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 brugada syndrome 5 and atrial fibrillation, familial, 13. Among its related pathways are L1CAM interactions and Activation of cAMP-Dependent PKA. GO annotations related to this gene include sodium channel regulator activity and voltage-gated sodium channel activity involved in cardiac muscle cell action potential. 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. Structurally, Nav channels are composed of one pore-forming alpha-subunit, which may be associated with either one or more beta-subunits. alpha-subunits are composed for four homologous domains, each of which contains six transmembrane segments. The fourth transmembrane loop (S4) acts as the 'voltage sensor' and is activated by changes in membrane potential. S4 is also involved in channel gating.