SCN1B
Sign in to saveAlso known as ATFB13, BRGDA5, GEFSP1, sodium voltage-gated channel beta subunit 1, EIEE52, DEE52
Sodium channel subunit beta-1 is a protein that in humans is encoded by the SCN1B gene.
Gene data
SCN1B- Name
- sodium voltage-gated channel beta subunit 1
- Type
- protein-coding
- Aliases
- ATFB13, BRGDA5, DEE52, EIEE52, GEFSP1
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.[provided by RefSeq, Oct 2009].
via MyGene.info
Gene · Ensembl
sodium voltage-gated channel beta subunit 1
- Symbol
- SCN1B
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 19:35,030,444-35,040,455
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 6 more facts
- HomoloGene ID
- 810
- exact match
- identifiers.org/ncbigene/6324
- genomic end
- 35040449
- genomic start
- 35030470
- cytogenetic location
- 19q13.11
- Commons category
- SCN1B
Sources (4)
via Wikidata · CC0
~1 min read
Article
5 sectionsContents
- Clinical significance
- See also
- References
- Further reading
- External links
Sodium channel subunit beta-1 is a protein that in humans is encoded by the SCN1B gene.
Voltage-gated sodium channels are essential for the generation and propagation of action potentials in striated muscle and neuronal tissues. Biochemically, they consist of a large alpha subunit and 1 or 2 smaller beta subunits, such as SCN1B. The alpha subunit alone can exhibit all the functional attributes of a voltage-gated Na+ channel, but requires a beta-1 subunit for normal inactivation kinetics.[supplied by OMIM]