GABRA5

Chr 15AD

gamma-aminobutyric acid type A receptor subunit alpha5

Also known as: DEE79, EIEE79

NCBI Gene: 2558 ENSG00000186297 UniProt: P31644 OMIM: 137142

The protein encoded by this gene forms part of GABA-A receptors, which are ligand-gated chloride channels that mediate the major inhibitory neurotransmission in the brain. Mutations cause developmental and epileptic encephalopathy 79 through an autosomal dominant inheritance pattern via a gain-of-function mechanism. The gene is highly constrained against loss-of-function variants, consistent with the pathogenic mechanism being gain-of-function rather than haploinsufficiency.

OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

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. At least 16 distinct subunits of GABA-A receptors have been identified. Transcript variants utilizing three different alternative non-coding first exons have been described. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Developmental and epileptic encephalopathy 79MIM #618559

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

0.37

LOEUF

Multiple*

Mechanism· predicted