DOCK7

Chr 1AR

dedicator of cytokinesis 7

Also known as: DEE23, EIEE23, ZIR2

NCBI Gene: 85440 ENSG00000116641 UniProt: Q96N67 OMIM: 615730

The protein functions as 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, inherited in an autosomal recessive pattern. The pathogenic mechanism involves disrupted neuronal development due to impaired axon formation and polarization.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) that plays a role in axon formation and neuronal polarization. The encoded protein displays GEF activity toward RAC1 and RAC3 Rho small GTPases but not toward CDC42. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Developmental and epileptic encephalopathy 23MIM #615859

Clinical highlights

Gene-disease validity (ClinGen)

genetic developmental and epileptic encephalopathy · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.38

LOEUF

LOF

Mechanism· G2P