SCN1B

SCN1B is a gene that in humans encodes the beta subunit of a voltage-gated sodium channel. This gene is part of the sodium channel, voltage-gated, type I, beta subunit (SCN1B) family, and is involved in the propagation of action potentials in neurons and muscle. This gene may also be associated with epilepsy and other neurological disorders.

Function

The protein encoded by the SCN1B gene is a subunit of a voltage-gated sodium channel, which are transmembrane glycoprotein complexes composed of a large alpha subunit and one or more regulatory beta subunits. Voltage-gated sodium channels play a key role in excitability of neurons and muscle, and mutations in this gene have been associated with several neurological disorders.

Clinical significance

Mutations in the SCN1B gene have been associated with a variety of conditions, including Generalized epilepsy with febrile seizures plus (GEFS+), Dravet syndrome, and cardiac arrhythmia. In particular, GEFS+ and Dravet syndrome are forms of epilepsy, while cardiac arrhythmia is a condition characterized by an irregular heartbeat.

See also

• Sodium channel
• Voltage-gated ion channel
• Neurological disorder
• Epilepsy
• Cardiac arrhythmia

External links

• SCN1B at the National Center for Biotechnology Information

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