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DEE93
Chr 3ADATPase H+ transporting V1 subunit A
Also known as: ARCL2D, ATP6A1, ATP6V1A1, DEE93, HO68, IECEE3, VA68, VPP2
This gene encodes a V1 domain A subunit of vacuolar ATPase (V-ATPase), a multisubunit enzyme that acidifies intracellular organelles and is essential for protein sorting, endocytosis, and synaptic vesicle function. Mutations cause developmental and epileptic encephalopathy 93, characterized by early-onset seizures and developmental delays affecting the central nervous system. The condition follows an autosomal dominant inheritance pattern.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/DEE93?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
DEE93 · 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