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DEE72
Chr 17ADneuronal differentiation 2
Also known as: DEE72, EIEE72, NDRF, bHLHa1
The protein is a neurogenic basic helix-loop-helix transcription factor that induces transcription from neuron-specific promoters and promotes neuronal differentiation and maintenance of neuronal cell fates. Mutations cause developmental and epileptic encephalopathy 72, a condition involving both developmental delays and seizures with early childhood onset. 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/DEE72?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
DEE72 · 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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Links to major genomics databases and tools