MTRFR Gene (Mitochondrial Translation Release Factor)
Essential regulator of mitochondrial protein synthesis and associated with neurodegenerative and metabolic disorders
Gene Information Card
| Symbol | MTRFR |
|---|---|
| Full Name | mitochondrial translation release factor |
| Gene Type | protein-coding |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 91574 ncbi.nlm.nih.gov/gene/91574 |
| Ensembl ID | ENSG00000111602 |
| UniProt ID | Q9Y4B6 |
| OMIM ID | 613541 |
| HGNC ID | 26786 |
| Aliases | C12orf65, COXPD7, SPG55 |
Description
The MTRFR gene (mitochondrial translation release factor) encodes a mitochondrial protein that functions as a translation release factor, specifically recognizing stop codons in mitochondrial mRNAs and promoting the release of nascent polypeptide chains from the ribosome. It is essential for proper mitochondrial protein synthesis, particularly for the assembly of oxidative phosphorylation complexes. Mutations in MTRFR cause combined oxidative phosphorylation deficiency 7 (COXPD7), characterized by early-onset neurodegeneration, optic atrophy, and spastic paraplegia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency 7 (COXPD7) | Loss-of-function mutations impair mitochondrial translation, leading to defective assembly of respiratory chain complexes I, IV, and V. | OMIM #613559; multiple case reports with biallelic MTRFR mutations |
| Hereditary spastic paraplegia 55 (SPG55) | MTRFR mutations cause axonal degeneration in corticospinal tracts due to mitochondrial dysfunction. | ClinVar; literature reports of homozygous or compound heterozygous variants |
| Optic atrophy (isolated or syndromic) | Mitochondrial translation defects lead to retinal ganglion cell loss and optic nerve degeneration. | Case series in NCBI PubMed; associated with COXPD7 phenotype |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Heart | 6.5 | Medium |
| Skeletal Muscle | 5.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 7.1 | Embryonic kidney cells; moderate expression |
| HeLa | 6.8 | Cervical cancer cells; moderate expression |
| SH-SY5Y | 9.4 | Neuroblastoma cells; high expression relevant to neuronal function |
| HepG2 | 5.2 | Hepatocellular carcinoma cells; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.130C>T (p.Arg44*) | Nonsense | Rare | Premature stop; loss of function; associated with COXPD7 |
| c.208_209del (p.Leu70Glufs*3) | Frameshift deletion | Rare | Loss of function; reported in hereditary spastic paraplegia |
| c.254T>C (p.Leu85Pro) | Missense | Rare | Impaired release factor activity; reduced mitochondrial translation |
| c.337C>T (p.Arg113Trp) | Missense | Rare | Decreased protein stability; associated with optic atrophy |
Mutation functional classification
Loss of Function (LOF)
Most MTRFR mutations are loss-of-function (nonsense, frameshift, or missense with reduced activity), leading to impaired mitochondrial translation and respiratory chain deficiency.
Gain of Function (GOF)
No gain-of-function mutations have been reported for MTRFR.
Dominant Negative (DN)
No dominant-negative effects have been described; all pathogenic variants are recessive.
View complete mutation data：
Gene Ontology (GO)
| • translation release factor activity (GO:0003747) | • mitochondrion (GO:0005739) |
| • translational termination (GO:0006415) | • mitochondrial translation (GO:0032543) |
| • mitochondrial ribosome (GO:0005761) |
Pathways
• Mitochondrial translation termination (Reactome: R-HSA-5419276)
• Respiratory electron transport (Reactome: R-HSA-611105)
Protein Summary
MTRFR encodes a 257-amino acid mitochondrial protein that belongs to the class 1 peptide chain release factor family. It specifically recognizes mitochondrial stop codons (UAA and UAG) and catalyzes the hydrolysis of the peptidyl-tRNA bond, releasing the completed polypeptide. The protein is localized to the mitochondrial matrix and interacts with the mitochondrial ribosome. Structural studies show a conserved GGQ motif essential for catalytic activity. Defects in MTRFR lead to impaired synthesis of mtDNA-encoded subunits of oxidative phosphorylation complexes, particularly affecting complex I, IV, and V assembly.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MTRFR Knockout HEK293 Cell Line | EDJ-KQ14334 | Human | 91574 | Details Get a Quote |
| MTRFR Knockout A-549 Cell Line | EDJ-KQ43205 | Human | 91574 | Details Get a Quote |
| MTRFR Knockout HCT 116 Cell Line | EDJ-KQ44442 | Human | 91574 | Details Get a Quote |
| MTRFR Knockout HeLa Cell Line | EDJ-KQ44443 | Human | 91574 | Details Get a Quote |
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