Full name: sodium channel, voltage-gated, type I, beta

Gene type: protein coding

RefSeq status: VALIDATED

Summary: Enables sodium channel inhibitor activity and voltage-gated sodium channel activity involved in cardiac muscle cell action potential. Involved in several processes, including membrane depolarization during cardiac muscle cell action potential; regulation of ventricular cardiac muscle cell membrane repolarization; and sodium ion transmembrane transport. Acts upstream of or within corticospinal neuron axon guidance; neuronal action potential propagation; and positive regulation of neuron projection development. Located in T-tubule; intercalated disc; and node of Ranvier. Part of sodium channel complex. Is expressed in heart. Used to study generalized epilepsy with febrile seizures plus. Human ortholog(s) of this gene implicated in Brugada syndrome 5; developmental and epileptic encephalopathy 52; familial atrial fibrillation; and generalized epilepsy with febrile seizures plus 1. Orthologous to human SCN1B (sodium voltage-gated channel beta subunit 1). [provided by Alliance of Genome Resources, Apr 2022]

Expression: Biased expression in cerebellum adult (RPKM 317.2), cortex adult (RPKM 267.6) and 9 other tissues

Gene size: 10500bp

Exon count: 7