MRRF: Mitochondrial Ribosome Recycling Factor
A nuclear-encoded gene essential for mitochondrial translation and ribosome recycling.
Gene Information Card
| Symbol | MRRF |
|---|---|
| Full Name | Mitochondrial Ribosome Recycling Factor |
| Gene Type | Protein coding |
| Chromosomal Location | 9q33.2 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000106868 |
| UniProt ID | Q96E11 |
| OMIM ID | 604602 |
| HGNC ID | 7231 |
| Aliases | RRF2, RRF, mtRRF |
Description
MRRF encodes a mitochondrial ribosome recycling factor that catalyzes the disassembly of stalled mitochondrial ribosomes after translation termination. This nuclear-encoded protein is imported into mitochondria where it binds to the large ribosomal subunit and, in conjunction with elongation factor G (EF-G), promotes ribosome recycling. MRRF is essential for efficient mitochondrial protein synthesis and oxidative phosphorylation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency | Impaired mitochondrial translation due to MRRF dysfunction leads to OXPHOS defects. | ClinVar, OMIM |
| Mitochondrial encephalopathy | MRRF mutations may disrupt mitochondrial protein synthesis in neural tissues. | ClinVar |
| Cardiomyopathy | Mitochondrial translation defects can impair cardiac energy metabolism. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.2 | Medium |
| Liver | 8.1 | Medium |
| Brain | 6.7 | Low |
| Kidney | 7.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | High expression |
| HeLa | 11.5 | Medium expression |
| K562 | 9.8 | Medium expression |
| HepG2 | 8.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.235C>T (p.Arg79Trp) | Missense | <0.01% | Unknown significance |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Homozygous or compound heterozygous loss-of-function mutations in MRRF are associated with combined oxidative phosphorylation deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • Ribosome disassembly | • Mitochondrial translation |
| • Ribosome recycling | • Protein biosynthesis |
| • Mitochondrion |
Pathways
• Mitochondrial translation termination and recycling
• Organellar ribosome recycling
Protein Summary
MRRF is a 249-amino acid protein localized to the mitochondrial matrix. It belongs to the ribosome recycling factor family and is structurally similar to bacterial RRF. The protein binds to the 55S mitochondrial ribosome and, together with mitochondrial EF-G, promotes the dissociation of ribosomal subunits after translation termination, enabling new rounds of translation. MRRF is critical for maintaining mitochondrial proteostasis and respiratory chain function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MRRF Knockout HEK293 Cell Line | EDJ-KQ10911 | Human | 92399 | Details Get a Quote |
| MRRF Knockout A-549 Cell Line | EDJ-KQ38649 | Human | 92399 | Details Get a Quote |
| MRRF Knockout HCT 116 Cell Line | EDJ-KQ38650 | Human | 92399 | Details Get a Quote |
| MRRF Knockout HeLa Cell Line | EDJ-KQ38651 | Human | 92399 | Details Get a Quote |
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