SNAP91

Chr 6

synaptosome associated protein 91

Also known as: AP180, CALM

NCBI Gene: 9892 ENSG00000065609 UniProt: O60641

The protein functions as a clathrin adaptor that links clathrin to receptors in coated vesicles and regulates clathrin-dependent endocytosis at synapses. Mutations cause autosomal recessive developmental and epileptic encephalopathy with movement abnormalities. This gene is extremely intolerant to loss-of-function variants, indicating that heterozygous variants are unlikely to be pathogenic in most cases.

ResearchSummary from RefSeq, UniProt

Predicted to enable several functions, including clathrin heavy chain binding activity; clathrin-cargo adaptor activity; and phospholipid binding activity. Acts upstream of or within regulation of clathrin-dependent endocytosis. Predicted to be located in cytosol; postsynaptic density; and synaptic membrane. Predicted to be active in several cellular components, including Schaffer collateral - CA1 synapse; cytoplasmic vesicle; and parallel fiber to Purkinje cell synapse. Predicted to be extrinsic component of presynaptic endocytic zone membrane. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Jun 2026]

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

Some data sources returned errors (1)

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