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DEE23
Chr 1ARdedicator of cytokinesis 7
Also known as: DEE23, EIEE23, ZIR2
This gene encodes a guanine nucleotide exchange factor that activates RAC1 and RAC3 small GTPases to regulate axon formation and neuronal polarization. Biallelic mutations cause developmental and epileptic encephalopathy 23, an autosomal recessive disorder characterized by early-onset seizures and developmental delays affecting the central nervous system.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/DEE23?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
DEE23 · 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