OMA1
Chr 1OMA1 zinc metallopeptidase
Also known as: 2010001O09Rik, MPRP-1, MPRP1, YKR087C, ZMPOMA1, peptidase
OMA1 encodes a mitochondrial metalloprotease that regulates mitochondrial quality control by cleaving target proteins including OPA1, DELE1, and UQCC3 in response to mitochondrial stress. Mutations cause autosomal recessive primary mitochondrial myopathy with early-onset progressive external ophthalmoplegia, ptosis, and exercise intolerance. The gene shows minimal constraint against loss-of-function variants (LOEUF 1.13), suggesting that complete loss of function may be tolerated in the heterozygous state.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
OMA1 · 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