ADAP1

Chr 7

ArfGAP with dual PH domains 1

Also known as: CENTA1, GCS1L, p42IP4

NCBI Gene: 11033 ENSG00000105963 UniProt: O75689

ADAP1 encodes a GTPase-activating protein that regulates ADP ribosylation factor family proteins and controls the incorporation of CD63 and CD9 into multivesicular bodies. Mutations cause autosomal recessive developmental and epileptic encephalopathy with early-onset seizures and severe intellectual disability. The gene shows significant constraint against loss-of-function variants (LOEUF 0.44), suggesting intolerance to protein disruption.

ResearchSummary from RefSeq, UniProt

Enables GTPase activator activity. Predicted to be involved in cell surface receptor signaling pathway. Located in cytosol; nucleus; and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

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

0.44

LOEUF

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Mechanism

Some data sources returned errors (1)

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