DOCK9

Chr 13

dedicator of cytokinesis 9

Also known as: ZIZ1, ZIZIMIN1

NCBI Gene: 23348 ENSG00000088387 UniProt: Q9BZ29 OMIM: 607325

This protein functions as a guanine nucleotide-exchange factor that activates CDC42 and induces filopodia formation, playing a role in cellular signaling and cytoskeletal organization. Mutations cause intellectual disability and developmental delay with variable additional features including seizures, behavioral abnormalities, and dysmorphic features, following an autosomal dominant inheritance pattern. The gene is highly constrained against loss-of-function variants, indicating intolerance to protein-disrupting mutations.

OMIM ResearchSummary from RefSeq, UniProt

Enables cadherin binding activity. Predicted to be involved in positive regulation of GTPase activity and regulation of Rho protein signal transduction. Located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.19

LOEUF· LoF intol.

LOF

Mechanism· predicted