MTRFR
Chr 12mitochondrial translation release factor in rescue
Also known as: C12orf65, COXPD7, SPG55, mtRF-R
The protein contributes to peptide chain termination in mitochondrial translation machinery and functions as part of a mitoribosome-associated quality control pathway that ejects unfinished nascent chains from stalled ribosomes. Mutations cause combined oxidative phosphorylation deficiency 7 and spastic paraplegia 55 through autosomal recessive inheritance, resulting in decreased mitochondrial translation and reduced levels of oxidative phosphorylation complexes that lead to encephalomyopathy.
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
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
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
213 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 | 14 | 0 | 20 | 0 | 34 |
Likely Pathogenic | 8 | 1 | 4 | 0 | 13 |
VUS | 3 | 60 | 41 | 0 | 104 |
Likely Benign | 0 | 0 | 15 | 28 | 43 |
Benign | 0 | 1 | 7 | 1 | 9 |
Conflicting | — | 9 | |||
| Total | 25 | 62 | 87 | 29 | 212 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MTRFR · 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