SCN4B
SCN4B is a gene that encodes the beta-4 subunit of the voltage-gated, skeletal muscle type sodium channel in humans. The protein encoded by this gene is one of several non-alpha subunits that interact with the alpha subunit to modulate the kinetic properties of the sodium channel.
Function[edit | edit source]
SCN4B is a member of the sodium channel beta subunit gene family. Sodium channels, voltage-gated, type IV, beta (SCN4B) are integral membrane proteins that help establish and control the small voltage gradient across the plasma membrane of cells. These channels are also referred to as 'voltage-gated sodium channels'. The beta subunit of the sodium channel serves two functions: it modulates the gating kinetics and functions of the sodium channel, and it is involved in cell adhesion.
Clinical significance[edit | edit source]
Mutations in the SCN4B gene have been associated with Long QT syndrome, a disorder of the heart's electrical activity that can cause sudden, uncontrollable, and irregular heartbeats (arrhythmias), which may lead to sudden death.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
- SCN4B at the US National Library of Medicine Medical Subject Headings (MeSH)
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Contributors: Prab R. Tumpati, MD
