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EPILX2

Chr XX-linked

gamma-aminobutyric acid type A receptor subunit alpha3

Also known as: EPILX2

NCBI Gene: 2556 OMIM: 301091

This gene encodes a subunit of GABA-A receptors, which are ligand-gated chloride channels that mediate the major inhibitory neurotransmission in the brain. Mutations cause X-linked epilepsy that may be associated with intellectual disability and dysmorphic features. The condition follows X-linked inheritance, primarily affecting males.

OMIM ResearchSummary from RefSeq, OMIM

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. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

X-linked1 OMIM phenotype

Clinical Summary— EPILX2

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Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/EPILX2?content-type=application/json&expand=1

gnomad: Error: Gene not found