DOCK7 encodes dedicator of cytokinesis 7 (2,140 aa). Functions as a guanine nucleotide exchange factor (GEF), which activates Rac1 and Rac3 Rho small GTPases by exchanging bound GDP for free GTP. Does not have a GEF activity for CDC42. Highest expression in Cells Cultured fibroblasts (17.6 TPM) and Nerve Tibial (13.6 TPM).

Developmental and epileptic encephalopathy, 23 is associated with mutations in the DOCK7 gene on chromosome 1.

The DOCK7 protein participates in DOCK7 activates RAC1, CRK,CRKL recruits RAC1 GEF to activated MET, and RAC1 GEFs activate RAC1 pathways.

DOCK7 is classified as a druggable target with score 0.0.

Genetic testing for DOCK7 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy, 23 has been reported in the published literature.

Phenotype severity distribution: 3 always present features, 20 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for developmental and epileptic encephalopathy, 23.

156 publications have been identified in PubMed for developmental and epileptic encephalopathy, 23. Research spans Epidemiology / Natural History (29%), Basic Science / Preclinical (20%), and Review / Meta-Analysis (18%).

Recent Publications

• Stafstrom CE (2026). [PMID: 41419420](https://pubmed.ncbi.nlm.nih.gov/41419420/). *Neurotherapeutics*. [Review / Meta-Analysis]

• Darmawan KF (2026). [PMID: 41761606](https://pubmed.ncbi.nlm.nih.gov/41761606/). *J Womens Health (Larchmt)*. [Epidemiology / Natural History]

• Sillanpää ML (2026). [PMID: 41386195](https://pubmed.ncbi.nlm.nih.gov/41386195/). *Epilepsy Behav*. [Diagnostic / Biomarker]

• Ortman C (2026). [PMID: 41367165](https://pubmed.ncbi.nlm.nih.gov/41367165/). *Epilepsia*. [Clinical Trial Publication]

• Bayanova M (2026). [PMID: 42194586](https://pubmed.ncbi.nlm.nih.gov/42194586/). *J Clin Med*. [Basic Science / Preclinical]

• McKenzie CE (2026). [PMID: 42017314](https://pubmed.ncbi.nlm.nih.gov/42017314/). *Brain*. [Clinical Trial Publication]

• Ortiz S (2026). [PMID: 41351427](https://pubmed.ncbi.nlm.nih.gov/41351427/). *Epilepsia*. [Basic Science / Preclinical]

• Briscoe C (2026). [PMID: 41172580](https://pubmed.ncbi.nlm.nih.gov/41172580/). *Pediatr Neurol*. [Review / Meta-Analysis]

• Daida A (2026). [PMID: 41665412](https://pubmed.ncbi.nlm.nih.gov/41665412/). *Epilepsia*. [Epidemiology / Natural History]

• Maclaine G (2026). [PMID: 41527503](https://pubmed.ncbi.nlm.nih.gov/41527503/). *Dev Med Child Neurol*. [Review / Meta-Analysis]