MRPL20
Mitochondrial Ribosomal Protein L20
Gene Information Card
| Symbol | MRPL20 |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein L20 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.33 |
| NCBI Gene ID | 55052 ncbi.nlm.nih.gov/gene/55052 |
| Ensembl ID | ENSG00000142444 |
| UniProt ID | Q9BYC9 |
| OMIM ID | 611833 |
| HGNC ID | 14482 |
| Aliases | L20mt, MRP-L20, 39S ribosomal protein L20, mitochondrial |
Description
MRPL20 encodes a 39S subunit protein of the mitochondrial ribosome. This protein is a component of the large mitochondrial ribosomal subunit and is involved in mitochondrial translation. The gene is located on chromosome 1 at p36.33 and is expressed in a wide range of tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency | Deficiency in mitochondrial translation due to MRPL20 mutations may impair OXPHOS complex assembly | ClinVar: pathogenic variants reported in rare cases of mitochondrial disease |
| Mitochondrial respiratory chain disorders | Loss of MRPL20 function reduces mitochondrial protein synthesis, leading to energy metabolism defects | Inferred from functional studies and patient-derived cell lines |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 14.2 | Medium |
| Heart | 11.8 | Medium |
| Brain | 8.5 | Low |
| Skeletal muscle | 10.1 | Medium |
| Kidney | 12.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.0 | High expression |
| HEK293 | 13.5 | High expression |
| K562 | 9.2 | Medium expression |
| HepG2 | 11.0 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287A>G (p.Asn96Ser) | Missense | <0.01% | Likely benign; reported in population databases |
| c.404C>T (p.Thr135Met) | Missense | <0.01% | Uncertain significance; ClinVar ID 1698495 |
Mutation functional classification
Loss of Function (LOF)
Homozygous or compound heterozygous loss-of-function variants in MRPL20 are predicted to impair mitochondrial translation and cause combined oxidative phosphorylation deficiency.
Gain of Function (GOF)
No gain-of-function mutations have been reported for MRPL20.
Dominant Negative (DN)
No dominant-negative mutations have been described for MRPL20.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome (GO:0003735) | • mitochondrial large ribosomal subunit (GO:0005762) |
| • mitochondrial translation (GO:0032543) |
Pathways
• Mitochondrial translation (Reactome: R-HSA-5389840)
• Organelle biogenesis and maintenance (Reactome: R-HSA-1852241)
Protein Summary
MRPL20 is a 39S mitochondrial ribosomal protein that forms part of the large subunit of the mitochondrial ribosome. It is essential for mitochondrial protein synthesis, particularly for the translation of 13 subunits of the oxidative phosphorylation complexes encoded by mitochondrial DNA. The protein is localized to the mitochondrial matrix and interacts with other ribosomal proteins and rRNA.
Related Services
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|---|---|---|---|---|
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