GABRG1

Chr 4

gamma-aminobutyric acid type A receptor subunit gamma1

NCBI Gene: 2565 ENSG00000163285 UniProt: Q8N1C3 OMIM: 137166

The gamma-1 subunit forms part of GABA(A) receptors, heteropentameric chloride channels that mediate inhibitory neurotransmission in the brain by allowing chloride influx when activated by GABA. Mutations cause autosomal recessive early infantile epileptic encephalopathy-89, characterized by severe seizures beginning in early infancy. This gene is not highly constrained against loss-of-function variants, which is consistent with the recessive inheritance pattern observed in affected patients.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene belongs to the ligand-gated ionic channel family. It is an integral membrane protein and plays an important role in inhibiting neurotransmission by binding to the benzodiazepine receptor and opening an integral chloride channel. This gene is clustered with three other family members on chromosome 4. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.81

LOEUF

Multiple*

Mechanism· predicted