CACNG3

Chr 16

calcium voltage-gated channel auxiliary subunit gamma 3

NCBI Gene: 10368 ENSG00000006116 UniProt: O60359

The protein encoded by CACNG3 is a transmembrane AMPA receptor regulatory protein (TARP) that regulates trafficking and gating properties of AMPA-selective glutamate receptors by promoting their targeting to synapses and modulating their activation, deactivation, and desensitization rates. Mutations in this gene are associated with childhood absence epilepsy, typically presenting in childhood. The gene is highly constrained against loss-of-function variants (pLI 0.99), indicating that such variants are likely to have significant clinical consequences.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family. This gene is a susceptibility locus for childhood absence epilepsy. [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)

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P/LP submissions

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P/LP missense

0.20

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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