VAMP4

Chr 1

vesicle associated membrane protein 4

Also known as: VAMP-4, VAMP24

NCBI Gene: 8674 ENSG00000117533 UniProt: O75379 OMIM: 606909

VAMP4 encodes a vesicle-associated membrane protein that facilitates vesicle docking and fusion at synapses and is involved in trans-Golgi network-to-endosome transport and secretory granule maturation. Mutations cause autosomal recessive neurodevelopmental disorders with intellectual disability, developmental delay, and seizures. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.77), consistent with its essential role in intracellular trafficking.

OMIM ResearchSummary from RefSeq, UniProt

Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. This protein may play a role in trans-Golgi network-to-endosome transport. [provided by RefSeq, Jul 2008]

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

0.77

LOEUF

Multiple*

Mechanism· predicted