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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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MTRFR
mitochondrial translation release factor in rescue
Chromosome 12 Β· 12q24.31
NCBI Gene: 91574Ensembl: ENSG00000130921.10HGNC: HGNC:26784UniProt: Q9H3J6
36PubMed Papers
22Diseases
0Drugs
23Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
rescue of stalled mitochondrial ribosomeribosomal large subunit bindingtRNA bindingmitochondrioncombined oxidative phosphorylation defect type 7Autosomal recessive spastic paraplegia type 55Spastic paraplegiahereditary spastic paraplegia 55
✦AI Summary

MTRFR (mitochondrial translation release factor in rescue) is a critical component of mitochondrial ribosome quality control that responds to aberrant translation events. As a heterodimer with MTRES1, MTRFR ejects unfinished nascent chains and peptidyl-tRNA from stalled mitoribosomes, preventing accumulation of aberrant translation products 1. The protein functions as a peptidyl-tRNA hydrolase within the mitoribosomal large subunit, with recruitment of mitoribosome biogenesis factors suggesting roles beyond ribosome rescue 1. MTRFR is essential for resolving nonstop mRNA complexes that evade canonical termination mechanisms, thereby maintaining mitochondrial protein synthesis fidelity 2. Pathogenic variants in MTRFR are loss-of-function mutations that cause MTRFR deficiency, with homozygous truncating mutations proving embryonically lethal in mice 3. MTRFR dysfunction impairs mitochondrial protein synthesis quality control, particularly affecting the 13 oxidative phosphorylation complex subunits synthesized within mitochondria 1. Clinically, MTRFR mutations associate with combined oxidative phosphorylation deficiency 7 and spastic paraplegia 55 (autosomal recessive), manifesting as neurological dysfunction 4. Gene replacement strategies using AAV9 delivery successfully correct mitochondrial phenotypes in cellular models 3, suggesting therapeutic potential for this monogenic mitochondrial disorder.

Sources cited
1
MTRFR heterodimerizes with MTRES1 to eject nascent chains and peptidyl-tRNA from stalled mitoribosomes; structures of mitoribosomal rescue complexes
PMID: 33243891
2
MTRFR resolves nonstop mRNA complexes resistant to canonical release factors; failure impairs protein synthesis and associates with human disease
PMID: 36399564
3
MTRFR variants are loss-of-function; homozygous truncating mutations are embryonic lethal; gene replacement rescues phenotypes in mouse and hiPSC models
PMID: 40452409
4
MTRFR mutations cause developmental and epileptic encephalopathy with characteristic motor phenotypes including ataxia and tremor
PMID: 40068485
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜22
combined oxidative phosphorylation defect type 7Open Targets
0.75Strong
Autosomal recessive spastic paraplegia type 55Open Targets
0.71Strong
Spastic paraplegiaOpen Targets
0.54Moderate
hereditary spastic paraplegia 55Open Targets
0.52Moderate
combined oxidative phosphorylation deficiencyOpen Targets
0.41Moderate
osteoarthritisOpen Targets
0.38Weak
Leigh syndromeOpen Targets
0.37Weak
mitochondrial diseaseOpen Targets
0.37Weak
Neurodevelopmental disorderOpen Targets
0.34Weak
type 2 diabetes mellitusOpen Targets
0.29Weak
hereditary motor and sensory neuropathy type 6Open Targets
0.27Weak
Abnormal brain morphologyOpen Targets
0.27Weak
optic atrophyOpen Targets
0.26Weak
schizophreniaOpen Targets
0.26Weak
Epileptic encephalopathyOpen Targets
0.26Weak
metabolic syndromeOpen Targets
0.23Weak
joint diseaseOpen Targets
0.22Weak
asthmaOpen Targets
0.19Weak
hereditary spastic paraplegiaOpen Targets
0.18Weak
intelligenceOpen Targets
0.17Weak
Combined oxidative phosphorylation deficiency 7UniProt
Spastic paraplegia 55, autosomal recessiveUniProt
Pathogenic Variants23
NM_152269.5(MTRFR):c.248del (p.Val83fs)Pathogenic
Combined oxidative phosphorylation defect type 7|Hereditary spastic paraplegia 55|Abnormal brain morphology|Epileptic encephalopathy|Combined oxidative phosphorylation defect type 7;Spastic paraplegia
β˜…β˜…β˜†β˜†2025β†’ Residue 83
NM_152269.5(MTRFR):c.207_220del (p.Pro70fs)Pathogenic
Combined oxidative phosphorylation defect type 7|Spastic paraplegia;Combined oxidative phosphorylation defect type 7
β˜…β˜…β˜†β˜†2025β†’ Residue 70
NM_152269.5(MTRFR):c.96_99dup (p.Pro34fs)Pathogenic
not provided|Combined oxidative phosphorylation defect type 7;Spastic paraplegia|Combined oxidative phosphorylation defect type 7;Hereditary spastic paraplegia 55
β˜…β˜…β˜†β˜†2025β†’ Residue 34
NM_152269.5(MTRFR):c.210del (p.Gly72fs)Pathogenic
Combined oxidative phosphorylation defect type 7|not provided|Combined oxidative phosphorylation defect type 7;Spastic paraplegia
β˜…β˜…β˜†β˜†2025β†’ Residue 72
NM_152269.5(MTRFR):c.43C>T (p.Arg15Ter)Pathogenic
not provided|Combined oxidative phosphorylation defect type 7;Spastic paraplegia
β˜…β˜…β˜†β˜†2025β†’ Residue 15
NM_152269.5(MTRFR):c.394C>T (p.Arg132Ter)Pathogenic
Hereditary spastic paraplegia 55|not provided|Spastic paraplegia;Combined oxidative phosphorylation defect type 7
β˜…β˜…β˜†β˜†2024β†’ Residue 132
NM_152269.5(MTRFR):c.259del (p.Ile87fs)Pathogenic
not provided|Combined oxidative phosphorylation defect type 7;Spastic paraplegia
β˜…β˜…β˜†β˜†2024β†’ Residue 87
NM_152269.5(MTRFR):c.283-1G>TLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_152269.5(MTRFR):c.135_142dup (p.Asp48fs)Pathogenic
Spastic paraplegia;Combined oxidative phosphorylation defect type 7
β˜…β˜†β˜†β˜†2023β†’ Residue 48
NM_152269.5(MTRFR):c.385_404dup (p.Lys138fs)Likely pathogenic
MTRFR-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 138
NM_152269.5(MTRFR):c.193_194insCGAAAGCAGTTTG (p.Val65fs)Pathogenic
Combined oxidative phosphorylation defect type 7;Spastic paraplegia
β˜…β˜†β˜†β˜†2023β†’ Residue 65
NM_152269.5(MTRFR):c.346del (p.Lys115_Val116insTer)Pathogenic
Hereditary spastic paraplegia 55|not provided|Combined oxidative phosphorylation defect type 7
β˜…β˜†β˜†β˜†2023β†’ Residue 115
NM_152269.5(MTRFR):c.409A>T (p.Lys137Ter)Pathogenic
Combined oxidative phosphorylation defect type 7;Spastic paraplegia
β˜…β˜†β˜†β˜†2021β†’ Residue 137
NM_152269.5(MTRFR):c.18_21del (p.Leu6fs)Likely pathogenic
Hereditary motor and sensory neuropathy with optic atrophy
β˜…β˜†β˜†β˜†2020β†’ Residue 6
NM_152269.5(MTRFR):c.127_146del (p.Met43fs)Pathogenic
Hereditary spastic paraplegia 55
β˜…β˜†β˜†β˜†2020β†’ Residue 43
NM_152269.5(MTRFR):c.415C>T (p.Gln139Ter)Likely pathogenic
Hereditary spastic paraplegia 55
β˜…β˜†β˜†β˜†2020β†’ Residue 139
NM_152269.5(MTRFR):c.307del (p.Gln103fs)Pathogenic
Combined oxidative phosphorylation defect type 7;Spastic paraplegia
β˜…β˜†β˜†β˜†2020β†’ Residue 103
NM_152269.5(MTRFR):c.-28-1489_283-968delPathogenic
Neurodevelopmental disorder
β˜…β˜†β˜†β˜†2019
NM_152269.5(MTRFR):c.33dup (p.Pro12fs)Pathogenic
Spastic paraplegia;Combined oxidative phosphorylation defect type 7
β˜…β˜†β˜†β˜†2019β†’ Residue 12
NM_152269.5(MTRFR):c.427_442dup (p.Thr148fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2017β†’ Residue 148
View on ClinVar β†—
Related Genes
MTRF1Shared pathway100%MTRF1LShared pathway100%HEMK1Shared pathway50%MRPL58Shared pathway48%GSPT2Shared pathway33%ETF1Shared pathway25%
Tissue Expression6 tissues
Brain
100%
Liver
89%
Ovary
89%
Heart
84%
Lung
62%
Bone Marrow
36%
Gene Interaction Network
Click a node to explore
MTRFRMTRF1MTRF1LHEMK1MRPL58GSPT2ETF1
PROTEIN STRUCTURE
Preparing viewer…
PDB7A5H Β· 3.30 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.22LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.77 [0.50–1.22]
RankingsWhere MTRFR stands among ~20K protein-coding genes
  • #10,820of 20,598
    Most Researched36
  • #2,072of 5,498
    Most Pathogenic Variants23
  • #12,892of 17,882
    Most Constrained (LOEUF)1.22
Genes detectedMTRFR
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Elongational stalling activates mitoribosome-associated quality control.
PMID: 33243891
Science Β· 2020
1.00
2
Mitochondrial protein synthesis quality control.
PMID: 38280230
Hum Mol Genet Β· 2024
0.90
3
Cross-ancestry analysis of brain QTLs enhances interpretation of schizophrenia genome-wide association studies.
PMID: 39362218
Am J Hum Genet Β· 2024
0.80
4
Evaluating the feasibility of gene replacement strategies to treat MTRFR deficiency.
PMID: 40452409
Dis Model Mech Β· 2025
0.70
5
Mammalian HEMK1 methylates glutamine residue of the GGQ motif of mitochondrial release factors.
PMID: 35260756
Sci Rep Β· 2022
0.60