SYNGR3

Chr 16

synaptogyrin 3

NCBI Gene: 9143 ENSG00000127561 UniProt: O43761

SYNGR3 encodes an integral membrane protein that functions in regulated exocytosis and indirectly regulates dopamine transporter activity at synapses. The gene has moderate constraint against loss-of-function variants (LOEUF 0.746), but definitive disease associations have not been established based on the provided information. Additional clinical and genetic evidence would be needed to determine specific phenotypes and inheritance patterns associated with SYNGR3 mutations.

ResearchSummary from RefSeq, UniProt

This gene encodes an integral membrane protein. The exact function of this protein is unclear, but studies of a similar murine protein suggest that it is a synaptic vesicle protein that also interacts with the dopamine transporter. The gene product belongs to the synaptogyrin gene family. [provided by RefSeq, Dec 2010]

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)

—

P/LP submissions

—

P/LP missense

0.75

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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