MTRFR Chromosome 12
Mitochondrial translation release factor in rescue
Upload your DNA to see your personal genotypes for variants in MTRFR.
What This Gene Does
This nuclear gene encodes a mitochondrial matrix protein that appears to contribute to peptide chain termination in the mitochondrial translation machinery. Two different 1 bp deletions (resulting in the same premature stop codon)result in decreased mitochondrial translation, decreased levels of oxidative phosphorylation complexes and encepthalomyopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]
Gene Info
Gene Group
Mitochondrial translation release factor family
Locus Type
gene with protein product
Location
12q24.31
Ensembl
ENSG00000130921
Associated Conditions (8)
Combined oxidative phosphorylation defect type 7
Spastic paraplegia
Hereditary spastic paraplegia
MTRFR-related disorder
Hereditary motor and sensory neuropathy with optic atrophy
Hereditary spastic paraplegia 55
Abnormal brain morphology
Epileptic encephalopathy
Key Variants
RS138538426
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 7, Spastic paraplegia, Combined oxidative phosphorylation defect type 7
Health Risk
RS140411575
Conflicting classifications of pathogenicity
Spastic paraplegia, Combined oxidative phosphorylation defect type 7, Hereditary spastic paraplegia
Health Risk
RS140942886
Conflicting classifications of pathogenicity
Spastic paraplegia, Combined oxidative phosphorylation defect type 7, Hereditary spastic paraplegia
Health Risk
RS147328685
Conflicting classifications of pathogenicity
Spastic paraplegia, Combined oxidative phosphorylation defect type 7, Hereditary spastic paraplegia
Health Risk
RS1593287730
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 7, Spastic paraplegia, Hereditary spastic paraplegia
Health Risk
RS188310109
Conflicting classifications of pathogenicity
Spastic paraplegia, Combined oxidative phosphorylation defect type 7, Hereditary spastic paraplegia
Health Risk
RS755467137
Conflicting classifications of pathogenicity
Spastic paraplegia, Combined oxidative phosphorylation defect type 7, Spastic paraplegia
Health Risk
RS769551356
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia, Combined oxidative phosphorylation defect type 7, Spastic paraplegia
Health Risk
RS775127232
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 7, Spastic paraplegia, Combined oxidative phosphorylation defect type 7
Health Risk
RS1064793074
Likely pathogenic
Health Risk
RS1439433665
Likely pathogenic
Health Risk
RS2138792385
Likely pathogenic
Hereditary motor and sensory neuropathy with optic atrophy, Hereditary motor and sensory neuropathy with optic atrophy
Health Risk
All Variants (30)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138538426 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 7, Spastic paraplegia, Combined oxidative phosphorylation defect type 7 |
| RS140411575 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Combined oxidative phosphorylation defect type 7, Hereditary spastic paraplegia |
| RS140942886 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Combined oxidative phosphorylation defect type 7, Hereditary spastic paraplegia |
| RS147328685 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Combined oxidative phosphorylation defect type 7, Hereditary spastic paraplegia |
| RS1593287730 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 7, Spastic paraplegia, Hereditary spastic paraplegia |
| RS188310109 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Combined oxidative phosphorylation defect type 7, Hereditary spastic paraplegia |
| RS755467137 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Combined oxidative phosphorylation defect type 7, Spastic paraplegia |
| RS769551356 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia, Combined oxidative phosphorylation defect type 7, Spastic paraplegia |
| RS775127232 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 7, Spastic paraplegia, Combined oxidative phosphorylation defect type 7 |
| RS1064793074 | Health Risk | Likely pathogenic | — |
| RS1439433665 | Health Risk | Likely pathogenic | — |
| RS2138792385 | Health Risk | Likely pathogenic | Hereditary motor and sensory neuropathy with optic atrophy, Hereditary motor and sensory neuropathy with optic atrophy |
| RS2547600190 | Health Risk | Likely pathogenic | — |
| RS2547600304 | Health Risk | Likely pathogenic | MTRFR-related disorder, MTRFR-related disorder |
| RS398122365 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 55, Hereditary spastic paraplegia 55 |
| RS1380513950 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 7, Spastic paraplegia, Combined oxidative phosphorylation defect type 7 |
| RS1460180114 | Health Risk | Pathogenic | Spastic paraplegia, Combined oxidative phosphorylation defect type 7, Spastic paraplegia |
| RS2048143498 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 7, Spastic paraplegia, Combined oxidative phosphorylation defect type 7 |
| RS2048145654 | Health Risk | Pathogenic | Hereditary spastic paraplegia 55, Hereditary spastic paraplegia 55 |
| RS2048187051 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 7, Spastic paraplegia, Combined oxidative phosphorylation defect type 7 |
| RS2138800520 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 7, Spastic paraplegia, Combined oxidative phosphorylation defect type 7 |
| RS2547597991 | Health Risk | Pathogenic | Spastic paraplegia, Combined oxidative phosphorylation defect type 7, Spastic paraplegia |
| RS397514539 | Health Risk | Pathogenic | Hereditary spastic paraplegia 55, Spastic paraplegia, Combined oxidative phosphorylation defect type 7 |
| RS398122972 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 7, Hereditary spastic paraplegia 55, Combined oxidative phosphorylation defect type 7 |
| RS587777667 | Health Risk | Pathogenic | Hereditary spastic paraplegia 55, Hereditary spastic paraplegia 55 |
| RS587777668 | Health Risk | Pathogenic | Hereditary spastic paraplegia 55, Hereditary spastic paraplegia 55 |
| RS863223926 | Health Risk | Pathogenic | Spastic paraplegia, Combined oxidative phosphorylation defect type 7, Hereditary spastic paraplegia 55 |
| RS576462794 | Health Risk | Pathogenic/Likely pathogenic | Combined oxidative phosphorylation defect type 7, Spastic paraplegia, Combined oxidative phosphorylation defect type 7 |
| RS587776508 | Health Risk | Pathogenic/Likely pathogenic | Combined oxidative phosphorylation defect type 7, Abnormal brain morphology, Hereditary spastic paraplegia 55 |
| RS757148270 | Health Risk | Pathogenic/Likely pathogenic | Spastic paraplegia, Combined oxidative phosphorylation defect type 7, Spastic paraplegia |