SCN7A

SCN7A is a gene that encodes the alpha subunit of a transmembrane protein which forms a voltage-gated sodium channel. This channel is expressed in tissues including the heart and skeletal muscle, and is involved in the generation and conduction of action potentials.

Function

The protein encoded by the SCN7A gene is a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in neurons.

Clinical significance

Mutations in the SCN7A gene have been associated with a variety of cardiac and skeletal muscle disorders, including Brugada syndrome, Long QT syndrome, and certain forms of Epilepsy. These conditions are characterized by abnormal electrical activity in the heart or brain, leading to an increased risk of seizures, arrhythmias, and sudden death.

Research

Research into the SCN7A gene and its associated protein is ongoing, with a focus on understanding the molecular mechanisms of sodium channel function and regulation. This research has potential implications for the development of new treatments for conditions associated with SCN7A mutations.

See also

• Sodium channel
• Voltage-gated ion channel
• Action potential

References

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