ARHGAP39

Chr 8

Rho GTPase activating protein 39

Also known as: CrGAP, Vilse

NCBI Gene: 80728 ENSG00000147799 UniProt: Q9C0H5 OMIM: 615880

ARHGAP39 encodes a protein with GTPase activator activity that functions in postsynaptic organization at glutamatergic synapses. Mutations cause autosomal recessive neurodevelopmental disorders with intellectual disability and seizures. The gene shows high constraint against loss-of-function variants (LOEUF 0.45), consistent with its essential role in synaptic function.

OMIM ResearchSummary from RefSeq

Predicted to enable GTPase activator activity. Involved in postsynapse organization. Is active in glutamatergic synapse. [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

0.45

LOEUF

Mechanism· predicted