GABRG3

Chr 15

gamma-aminobutyric acid type A receptor subunit gamma3

NCBI Gene: 2567 ENSG00000182256 UniProt: Q99928 OMIM: 600233

The GABRG3 protein is a gamma subunit of GABA-A receptors, pentameric ligand-gated chloride channels that mediate inhibitory neurotransmission in the brain and contain the benzodiazepine binding site. Mutations cause autosomal recessive epileptic encephalopathy with intellectual disability and developmental delays. This gene is highly constrained against loss-of-function variants (pLI 0.85, LOEUF 0.39), indicating that such mutations are likely to have significant clinical consequences.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. The protein encoded by this gene is a gamma subunit, which contains the benzodiazepine binding site. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Aug 2012]

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)

—

P/LP submissions

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P/LP missense

0.39

LOEUF

Multiple*

Mechanism· predicted