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DEE71
Chr 2ARglutaminase
Also known as: AAD20, CASGID, DEE71, EIEE71, GAC, GAM, GDPAG, GLS1
The encoded protein is a phosphate-activated mitochondrial glutaminase that catalyzes the hydrolysis of glutamine to glutamate and ammonia, serving essential roles in energy metabolism, glutamate neurotransmitter synthesis in the brain, and acid-base balance in the kidney. Mutations cause developmental and epileptic encephalopathy 71, which follows autosomal recessive inheritance. This condition affects both neurological development and seizure control, reflecting the protein's critical role in brain glutamate production.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/DEE71?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
DEE71 · 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