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DEE76
Chr 7ARactin like 6B
Also known as: ACTL6, BAF53B, DEE76, EIEE76, IDDSSAD, SMARCN2, arpNalpha
This gene encodes a subunit of the BAF chromatin remodeling complex that facilitates transcriptional activation by modifying chromatin structure, with specific roles in brain gene regulation. Biallelic mutations cause developmental and epileptic encephalopathy 76, an autosomal recessive condition characterized by early-onset seizures and developmental impairment. The disorder primarily affects the central nervous system with both epileptic and neurodevelopmental features.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/DEE76?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
DEE76 · 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
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Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools