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DEE39
Chr 2ARsolute carrier family 25 member 12
Also known as: AGC1, ARALAR, DEE39, EIEE39
The protein is a calcium-binding mitochondrial carrier that exchanges aspartate for glutamate across the inner mitochondrial membrane. Mutations cause developmental and epileptic encephalopathy 39, which involves seizures, developmental delay, and global cerebral hypomyelination. The condition follows autosomal recessive inheritance.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/DEE39?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
DEE39 · 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