Sodium Channel Subunit Beta-1 (SCN1B) Mouse Recombinant Protein

SCN1B: 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. Defects in SCN1B are the cause of generalized epilepsy with febrile seizures plus type 1 (GEFS+1). Generalized epilepsy with febrile seizures-plus refers to a rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. GEFS+ is a disease combining febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. Defects in SCN1B are the cause of Brugada syndrome type 5 (BRGDA5). A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs (called ventricular fibrillation), the individual will faint and may die in a few minutes if the heart is not reset. Belongs to the sodium channel auxiliary subunit SCN1B (TC 8.A.17) family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Channel, sodium; Membrane protein, integral

Cellular Component: voltage-gated sodium channel complex; membrane; T-tubule; integral to membrane

Molecular Function: sodium channel inhibitor activity; protein binding; sodium channel regulator activity; voltage-gated sodium channel activity; voltage-gated ion channel activity; sodium channel activity

Biological Process: membrane depolarization; axon guidance; transport; action potential propagation; corticospinal neuron axon guidance; sodium ion transport; ion transport; regulation of sodium ion transport; locomotion; response to pyrethroid; cardiac muscle contraction