SCN1B
Description
The SCN1B (sodium voltage-gated channel beta subunit 1) is a protein-coding gene located on chromosome 19.
Sodium channel subunit beta-1 is a protein encoded by the SCN1B gene in humans. It serves as a crucial component of voltage-gated sodium channels, which are vital for action potential generation and propagation in striated muscle and neuronal tissues. These channels consist of a large alpha subunit and one or two smaller beta subunits, like SCN1B. While the alpha subunit alone exhibits functional characteristics of a voltage-gated Na+ channel, the presence of a beta-1 subunit is essential for normal inactivation kinetics. Mutations in the SCN1B gene have been linked to disorders like Brugada syndrome, Dravet syndrome, and GEFS.
SCN1B, the beta-1 subunit of voltage-gated sodium channels, plays a crucial role in the regulation of sodium channel activity. It acts as a modulator, influencing the rate of inactivation and the presence of the alpha subunit at the cell surface. This modulation extends to various alpha subunits, including SCN1A, SCN2A, SCN3A, SCN4A, SCN5A, and SCN10A, influencing their activity and function. The interaction with these different alpha subunits underscores its importance in diverse excitable tissues like brain, heart, and skeletal muscle.
SCN1B is also known as ATFB13, BRGDA5, DEE52, EIEE52, GEFSP1.
Associated Diseases
- Generalized epilepsy with febrile seizures-plus
- Brugada syndrome
- Early infantile epileptic encephalopathy
- Familial atrial fibrillation
- Dravet syndrome
- Epileptic encephalopathy, early infantile, 52
- Familial progressive cardiac conduction defect
- Generalized epilepsy with febrile seizures plus, type 1
- Atrial fibrillation, familial, 13
- Brugada syndrome 5
