SYT1

Chr 12

synaptotagmin 1

Also known as: BAGOS, P65, SVP65, SYT

NCBI Gene: 6857 ENSG00000067715 UniProt: P21579

The protein functions as a calcium sensor that triggers neurotransmitter release at synapses by binding to acidic phospholipids and interacting with key synaptic proteins including neurexins and syntaxin. Mutations cause Baker-Gordon syndrome, an autosomal dominant neurodevelopmental disorder. The gene is highly constrained against loss-of-function variants (LOEUF 0.451), reflecting its critical role in synaptic transmission.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the synaptotagmin protein family. The synaptotagmins are integral membrane proteins of synaptic vesicles that serve as calcium sensors in the process of vesicular trafficking and exocytosis. The encoded protein participates in triggering neurotransmitter release at the synapse in response to calcium binding. Mutations in this gene are associated with Baker-Gordon syndrome. [provided by RefSeq, Jan 2023]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtBaker-Gordon syndrome

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.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.45

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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