ERMP1
Chr 9endoplasmic reticulum metallopeptidase 1
Also known as: FXNA, KIAA1815, bA207C16.3
ERMP1 encodes a metalloexopeptidase involved in the endoplasmic reticulum unfolded protein response and cellular responses to oxidative stress. Mutations cause early infantile epileptic encephalopathy with developmental delay, intellectual disability, and seizures, inherited in an autosomal recessive pattern. The gene shows very low constraint against loss-of-function variants.
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
324 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 | 151 | 0 | 151 |
Likely Pathogenic | 0 | 0 | 7 | 0 | 7 |
VUS | 0 | 133 | 8 | 0 | 141 |
Likely Benign | 0 | 1 | 1 | 2 | 4 |
Benign | 0 | 2 | 0 | 3 | 5 |
| Total | 0 | 136 | 167 | 5 | 308 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ERMP1 · 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