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DEE69
Chr 1ADcalcium voltage-gated channel subunit alpha1 E
Also known as: BII, CACH6, CACNL1A6, Cav2.3, DEE69, EIEE69, gm139
The alpha-1E subunit encoded by this gene forms part of R-type voltage-dependent calcium channels that mediate calcium entry into excitable cells and regulate neuronal firing patterns important for information processing. Mutations cause developmental and epileptic encephalopathy 69, characterized by early-onset seizures and developmental impairment. Inheritance is autosomal dominant.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/DEE69?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
DEE69 · protein map & ClinVar variants
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3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
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External Resources
Links to major genomics databases and tools