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DEE45
Chr 4ADgamma-aminobutyric acid type A receptor subunit beta1
Also known as: DEE45, EIEE45
The GABA A receptor beta 1 subunit forms part of a multisubunit chloride channel that mediates fast inhibitory synaptic transmission in the central nervous system. Mutations cause developmental and epileptic encephalopathy 45, characterized by early-onset seizures and developmental impairment. Inheritance is autosomal dominant.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/DEE45?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
DEE45 · 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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External Resources
Links to major genomics databases and tools