Ensembl is currently experiencing issues
The Ensembl REST API is temporarily unavailable. Some gene data (transcript details, protein domains) may be incomplete. Other data sources are unaffected.
You can check Ensembl's status at status.ensembl.org
EPILX1
Chr XX-linkedsynapsin I
Also known as: EPILX, EPILX1, MRX50, SYN1a, SYN1b, SYNI
The protein is a neuronal phosphoprotein that associates with synaptic vesicles and regulates axonogenesis, synaptogenesis, and neurotransmitter release through phosphorylation-dependent mechanisms. Mutations cause X-linked epilepsy with variable learning disabilities and behavioral disorders. This 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/EPILX1?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
EPILX1 · 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 open access results found
External Resources
Links to major genomics databases and tools