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DEE52
Chr 19ARsodium voltage-gated channel beta subunit 1
Also known as: ATFB13, BRGDA5, DEE52, EIEE52, GEFSP1
The sodium channel beta-1 subunit modulates the kinetics of channel inactivation for voltage-gated sodium channels that generate and propagate action potentials in muscle and neuronal cells. Mutations cause developmental and epileptic encephalopathy 52 with autosomal recessive inheritance. This condition affects both neurological development and seizure control, reflecting the protein's role in neuronal excitability.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DEE52 · protein map & ClinVar variants
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3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
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External Resources
Links to major genomics databases and tools