GSG1L

Chr 16

GSG1 like

Also known as: PRO19651

NCBI Gene: 146395 ENSG00000169181 UniProt: Q6UXU4

The protein functions as a component of the inner core of AMPA receptor complexes and modifies AMPA receptor gating, playing a role in synaptic transmission and plasticity. Mutations cause autosomal recessive developmental and epileptic encephalopathy with developmental delay, intellectual disability, and seizures. The gene shows moderate constraint against loss-of-function variants, supporting its important role in normal neurodevelopment.

ResearchSummary from RefSeq, UniProt

Predicted to be involved in regulation of postsynaptic neurotransmitter receptor internalization. Predicted to act upstream of or within several processes, including regulation of AMPA receptor activity; regulation of short-term neuronal synaptic plasticity; and transmission of nerve impulse. Predicted to be located in asymmetric synapse and membrane. Predicted to be active in Schaffer collateral - CA1 synapse; glutamatergic synapse; and postsynaptic density membrane. [provided by Alliance of Genome Resources, Apr 2025]

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

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P/LP missense

0.46

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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