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DEE96

Chr 17

N-ethylmaleimide sensitive factor, vesicle fusing ATPase

Also known as: DEE96, SEC18, SKD2

Enables PDZ domain binding activity and ionotropic glutamate receptor binding activity. Involved in intracellular protein transport; positive regulation of protein catabolic process; and positive regulation of receptor recycling. Located in Golgi apparatus; cytosol; and plasma membrane. Implicated in developmental and epileptic encephalopathy 96. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
Some data sources returned errors (3)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/DEE96?content-type=application/json&expand=1

gnomad: Error: Gene not found

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

DEE96 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

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