MRPL23: Mitochondrial Ribosomal Protein L23
A nuclear-encoded component of the mitochondrial large ribosomal subunit involved in mitochondrial translation and oxidative phosphorylation.
Gene Information Card
| Symbol | MRPL23 |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein L23 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p15.5 |
| NCBI Gene ID | 6150 ncbi.nlm.nih.gov/gene/6150 |
| Ensembl ID | ENSG00000149256 |
| UniProt ID | Q9BYD6 |
| OMIM ID | 611832 |
| HGNC ID | 14488 |
| Aliases | L23MT, MRP-L23, RPL23L |
Description
MRPL23 encodes a mitochondrial ribosomal protein (MRP) that is a component of the large (39S) subunit of the mitochondrial ribosome. This protein is involved in mitochondrial translation, synthesizing proteins essential for oxidative phosphorylation. MRPL23 is nuclear-encoded and imported into the mitochondria.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency (unspecified) | Deficiency in mitochondrial translation due to MRPL23 mutations impairs complex I-V assembly | ClinVar: pathogenic variants reported in patients with mitochondrial disease |
| Mitochondrial encephalopathy | Disrupted mitochondrial protein synthesis leads to energy deficit in neural tissues | OMIM: associated phenotypes include neurological symptoms |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Liver | 8.7 | Medium |
| Skeletal Muscle | 15.1 | High |
| Brain | 6.5 | Low |
| Kidney | 9.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.5 | Cervical cancer cell line |
| HEK293 | 11.2 | Embryonic kidney cells |
| K562 | 8.9 | Leukemia cell line |
| HepG2 | 10.1 | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.292C>T (p.Arg98Trp) | Missense | <0.01% | Likely pathogenic; disrupts ribosome assembly |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of function; no protein produced |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense mutations that impair protein folding or stability, reducing mitochondrial translation.
Gain of Function (GOF)
None reported.
Dominant Negative (DN)
Not documented.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome (GO:0003735) | • mitochondrial large ribosomal subunit (GO:0005763) |
| • mitochondrial translation (GO:0032543) | • translation (GO:0006412) |
Pathways
• Mitochondrial translation (Reactome: R-HSA-5389840)
• Organelle biogenesis and maintenance (Reactome: R-HSA-1852241)
Protein Summary
MRPL23 is a 153-amino-acid protein (17.5 kDa) localized to the mitochondrial matrix. It is a component of the mitochondrial large ribosomal subunit (39S), where it contributes to the structural integrity and function of the ribosome. The protein contains a ribosomal protein L23 domain and is essential for mitochondrial protein synthesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MRPL23 Knockout HEK293 Cell Line | EDJ-KQ50579 | Human | 6150 | Details Get a Quote |
| MRPL23 Knockout HeLa Cell Line | EDJ-KQ54347 | Human | 6150 | Details Get a Quote |
| MRPL23 Knockout A-549 Cell Line | EDJ-KQ62843 | Human | 6150 | Details Get a Quote |
| MRPL23 Knockout HCT 116 Cell Line | EDJ-KQ71309 | Human | 6150 | Details Get a Quote |
