SCN1B Antibody – Rabbit Polyclonal

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]

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: Membrane protein, integral; Channel, sodium

Chromosomal Location of Human Ortholog: 19q13.1

Cellular Component: voltage-gated sodium channel complex; T-tubule; extracellular region

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

Biological Process: synaptic transmission; membrane depolarization; axon guidance; action potential propagation; corticospinal neuron axon guidance; cell adhesion; locomotion; response to pyrethroid; cardiac muscle contraction

Disease: Generalized Epilepsy With Febrile Seizures Plus, Type 1; Atrial Fibrillation, Familial, 13; Brugada Syndrome 5