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DEE70
Chr 6ADphosphatase and actin regulator 1
Also known as: DEE70, EIEE70, RPEL, RPEL1, dJ257A7.2
This protein binds actin and regulates actin cytoskeleton reorganization, playing a role in tubule formation and endothelial cell survival. Mutations cause developmental and epileptic encephalopathy 70, which follows an autosomal dominant inheritance pattern. The condition involves both neurodevelopmental impairment and epilepsy, typically with early childhood onset.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/DEE70?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
DEE70 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools