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Scn1b encodes one type of beta subunit found in voltage-gated sodium channels. These channels, composed of one alpha and one or two different beta subunits, mediates changes in cell permeability to sodium ions that are essential for the generation of action potentials. Scn1b protein is comprised of an extracellular N-terminus and a single transmembrane domain. Scn1b is considered an auxiliary subunit that modulates channel gating as well as plasma membrane expression levels. At least two mRNA variants, resulting from intron retention in the longer form, have been reported. A mutation in the extracellular immunoglobulin domain of Scn1b protein has been linked to 'generalized epilepsy with febrile seizures plus type 1' (GEFS+1). Mutations in the Scn1b gene may also be responsible for severe myoclonic epilepsy in infancy (SME).
Gene Name: | sodium channel, voltage-gated, type I, beta subunit |
Family/Subfamily: | Ion Channel , Sodium channel - voltage-gated |
Synonyms: | SCN1B, GEFS+1, Sodium channel subunit beta-1, GEFSP1, Sodium channel beta-1 subunit |
Target Sequences: | NM_001037 NP_001028.1 Q07699 |
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