SCN3B
SCN3B is a gene that encodes a subunit of the voltage-gated sodium channel in humans. This gene is located on the short arm of chromosome 11 (11q23.3). The protein encoded by this gene is a beta subunit, which is part of the ion channel that produces the sodium ion current in cardiac myocytes.
Function[edit | edit source]
The SCN3B gene encodes the beta-3 subunit of the voltage-gated sodium channel. This subunit is not responsible for the channel's voltage-dependent activation, but it modulates the kinetics of channel inactivation and plays a role in channel assembly. The beta-3 subunit also interacts with the alpha subunit to increase the cell surface expression of the channel and to affect the channel's gating characteristics.
Clinical significance[edit | edit source]
Mutations in the SCN3B gene have been associated with Brugada syndrome, a genetic disorder that can cause life-threatening irregular heart rhythms. In addition, these mutations can also cause cardiac conduction disease, which can lead to heart block, a condition where the electrical signals in the heart are delayed or blocked.
See also[edit | edit source]
References[edit | edit source]
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