Symbol: Name: ID: |
SCN1B sodium channel, voltage-gated, type I, beta GFS:511 |
Gene name: | SCN1B |
Chromosome: | 19 |
Previous Symbols: | |
Previous Names: | sodium channel, voltage-gated, type I, beta polypeptide |
Aliases: | |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:98247 | Rat Genome Database ID: | RGD:3631 |
HGNC ID: | HGNC:10586 | RefSeq IDs: | NM_001037 |
Entrez Gene ID: | 6324 | Ensembl Gene ID: | ENSG00000105711 |
VEGA IDs: | UniProt ID: | Q07699 | |
UCSC ID: | uc002nxo.1 | OMIM ID: | 600235 |
Pubmed: | PMID8394762 | ||
CCDS IDs: | CCDSCCDS12441.1 CCDS CCDS46047.1 |
Voltage-gated sodium channels are heteromeric proteins that function in the generation and propagation of action potentials in muscle and neuronal cells. They are composed of one alpha and two beta subunits, where the alpha subunit provides channel activity and the beta-1 subunit modulates the kinetics of channel inactivation. This gene encodes a sodium channel beta-1 subunit. Mutations in this gene result in generalized epilepsy with febrile seizures plus, Brugada syndrome 5, and defects in cardiac conduction. Multiple transcript variants encoding different isoforms have been found for this gene.
Crucial in the assembly, expression, and functional modulation of the heterotrimeric complex of the sodium channel. The subunit beta-1 can modulate multiple alpha subunit isoforms from brain, skeletal muscle, and heart. Its association with neurofascin may target the sodium channels to the nodes of Ranvier of developing axons and retain these channels at the nodes in mature myelinated axons
Products for SCN1B gene
Catalog | Product Name | Application | Company |
GFS:E00511 | sodium channel, voltage-gated, type I, beta; ELISA kit | ELISA | n/a |
GFS:A00511 | sodium channel, voltage-gated, type I, beta; Anti | ANTIBODIES | n/a |
GFS:P00511 | sodium channel, voltage-gated, type I, beta; Protien | Protien | n/a |