SCN3B Human

The Sodium Channel Voltage-Gated, Type III Beta, also known as SCN3B, is a protein encoded by the SCN3B gene in humans. This protein is a part of the voltage-gated sodium channels, which are essential for the generation and propagation of action potentials in neurons and muscle cells . These channels are transmembrane glycoprotein complexes composed of a large alpha subunit and one or more regulatory beta subunits .

Voltage-gated sodium channels are crucial for the proper functioning of excitable cells. The alpha subunit forms the core of the channel and is responsible for the voltage-dependent sodium ion permeability of the membrane. The beta subunits, including the Type III Beta subunit, modulate the activity of the alpha subunit and play a role in the regulation of channel expression, localization, and function .

The SCN3B gene is located on chromosome 11q24.1 and encodes the beta-3 subunit of the sodium channel . This subunit is involved in various physiological processes, including the regulation of cardiac muscle cell action potentials and the sensory perception of pain .

Mutations in the SCN3B gene have been associated with several clinical conditions. For instance, alterations in this gene can lead to cardiac arrhythmias, such as Brugada syndrome, which is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death . Additionally, mutations in SCN3B have been linked to epilepsy and other neurological disorders .

Human recombinant SCN3B proteins are used in various research applications to study the function and regulation of sodium channels. These studies are crucial for understanding the molecular mechanisms underlying various diseases and for developing potential therapeutic interventions.