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DEE52
Chr 19ARsodium voltage-gated channel beta subunit 1
Also known as: 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]
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/DEE52?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
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Protein Context — Lollipop Plot
DEE52 · protein map & ClinVar variants
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External Resources
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