EDEM1
Chr 3ER degradation enhancing alpha-mannosidase like protein 1
Also known as: EDEM
EDEM1 encodes an ER-associated degradation (ERAD) protein that extracts misfolded glycoproteins from the calnexin cycle and targets them for degradation, while also having mannosidase activity that trims mannose residues from N-glycans. Mutations cause autosomal recessive developmental and epileptic encephalopathy with microcephaly, featuring early-onset seizures and severe intellectual disability. The gene shows very low constraint to loss-of-function variants, consistent with recessive inheritance where heterozygous carriers are unaffected.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
199 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 71 | 0 | 71 |
Likely Pathogenic | 0 | 0 | 5 | 0 | 5 |
VUS | 0 | 91 | 13 | 0 | 104 |
Likely Benign | 0 | 3 | 1 | 0 | 4 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 94 | 90 | 0 | 184 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
EDEM1 · 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 →External Resources
Links to major genomics databases and tools