SCN1B

(redirected from GEFSP1)

SCN1B

A gene on chromosome 19q13.1 that encodes a beta subunit of a transmembrane glycoprotein complex, which forms a voltage-gated sodium channel. The beta-1 subunit modulates the kinetics of channel inactivation.

Molecular pathology
SCN1B mutations are linked to generalised epilepsy with febrile seizures, Brugada syndrome 5 and defects in cardiac conduction.