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DEE23

Chr 1AR

dedicator 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.

OMIMResearchSummary from RefSeq, OMIM
AR1 OMIM phenotype
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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 3 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found