MIPEP
Chr 13ARmitochondrial intermediate peptidase
Also known as: COXPD31, HMIP, MIP
The protein cleaves imported mitochondrial proteins to their mature size, representing the final processing step for nuclear-encoded proteins targeted to the mitochondrial matrix or inner membrane, particularly those involved in oxidative phosphorylation. Mutations cause combined oxidative phosphorylation deficiency 31 with autosomal recessive inheritance. The gene shows minimal constraint against loss-of-function variants (pLI near zero), which is consistent with recessive disease requiring biallelic mutations.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
200 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 | 3 | 0 | 5 | 0 | 8 |
Likely Pathogenic | 5 | 0 | 0 | 0 | 5 |
VUS | 0 | 104 | 9 | 0 | 113 |
Likely Benign | 0 | 2 | 17 | 25 | 44 |
Benign | 0 | 1 | 2 | 0 | 3 |
Conflicting | — | 2 | |||
| Total | 8 | 107 | 33 | 25 | 175 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MIPEP · 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