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EPILX2
Chr XX-linkedgamma-aminobutyric acid type A receptor subunit alpha3
Also known as: EPILX2
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.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/EPILX2?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
EPILX2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No publications found for EPILX2
External Resources
Links to major genomics databases and tools