MRPL34: Mitochondrial Ribosomal Protein L34
A core component of the mitochondrial large ribosomal subunit involved in intra-mitochondrial protein synthesis.
Gene Information Card
| Symbol | MRPL34 |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein L34 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 64981 ncbi.nlm.nih.gov/gene/64981 |
| Ensembl ID | ENSG00000130309 |
| UniProt ID | Q9BQ48 |
| OMIM ID | 611842 |
| HGNC ID | 14488 |
| Aliases | L34mt, MRP-L34 |
Description
MRPL34 encodes a 39S subunit protein of the mitochondrial ribosome. This protein is one of the many components that assemble into the large ribosomal subunit, which is essential for translating mitochondrial mRNAs into proteins. MRPL34 belongs to the L34P family of ribosomal proteins and is nuclear-encoded, imported into mitochondria after translation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency (unspecified) | Deficiency in mitochondrial translation due to MRPL34 loss impairs OXPHOS complex assembly | ClinVar: loss-of-function variants reported in patients with mitochondrial disease |
| Mitochondrial respiratory chain disorders | Reduced MRPL34 expression leads to decreased mitochondrial protein synthesis and ATP production | Inferred from functional studies (PubMed) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal Muscle | 10.2 | Medium |
| Liver | 8.9 | Low |
| Kidney | 7.3 | Low |
| Brain | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.3 | Ubiquitous expression |
| HEK293 | 11.8 | Moderate expression |
| HepG2 | 9.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2T>C (p.Met1?) | Start loss | Rare | Loss of protein translation initiation |
| c.175C>T (p.Arg59*) | Nonsense | Rare | Premature truncation, likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss variants lead to truncated or absent MRPL34 protein, impairing mitochondrial ribosome assembly and translation.
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)
| • structural constituent of ribosome (GO:0003735) | • mitochondrial large ribosomal subunit (GO:0005763) |
| • mitochondrial translation (GO:0032543) |
Pathways
• Mitochondrial translation (Reactome: R-HSA-5368287)
• Organelle biogenesis and maintenance
Protein Summary
MRPL34 is a 34 kDa protein that localizes to the mitochondrial matrix and forms part of the 39S large ribosomal subunit. It binds rRNA and stabilizes the ribosome structure, enabling efficient translation of the 13 mtDNA-encoded OXPHOS subunits. The protein contains a conserved L34 domain and is essential for mitochondrial function.
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|---|---|---|---|---|
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