MRPS26: Mitochondrial Ribosomal Protein S26
A nuclear-encoded component of the mitochondrial small ribosomal subunit essential for intra-mitochondrial protein synthesis
Gene Information Card
| Symbol | MRPS26 |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein S26 |
| Gene Type | Protein-coding |
| Chromosomal Location | 20p13 |
| NCBI Gene ID | 64949 ncbi.nlm.nih.gov/gene/64949 |
| Ensembl ID | ENSG00000125901 |
| UniProt ID | Q9BYN8 |
| OMIM ID | 611988 |
| HGNC ID | 16641 |
| Aliases | MRP-S26, S26mt, HSPC290, CGI-132 |
Description
MRPS26 encodes a 28S mitochondrial ribosomal small subunit protein (MRP-S26) that is nuclear-encoded and imported into mitochondria. It is a component of the mitochondrial ribosome (mitoribosome), which translates 13 mtDNA-encoded subunits of the oxidative phosphorylation (OXPHOS) system. MRPS26 is essential for proper assembly and function of the small ribosomal subunit, and its deficiency impairs mitochondrial translation leading to OXPHOS defects.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined Oxidative Phosphorylation Deficiency (COXPD) | Loss-of-function mutations in MRPS26 impair mitochondrial translation, reducing synthesis of OXPHOS subunits, leading to energy deficiency. | ClinVar, OMIM #611988 |
| Mitochondrial Encephalopathy | Defective mitochondrial protein synthesis due to MRPS26 mutations causes neurological symptoms including developmental delay and seizures. | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | High |
| Skeletal Muscle | 10.8 | High |
| Liver | 8.2 | Medium |
| Brain | 7.6 | Medium |
| Kidney | 6.9 | Medium |
| Lung | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | High expression in cervical cancer cell line |
| HEK293 | 11.5 | High expression in embryonic kidney cells |
| K562 | 9.8 | Medium expression in leukemia cell line |
| HepG2 | 8.1 | Medium expression in liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense/Start loss | Rare | Loss of translation initiation, likely loss-of-function |
| c.184C>T (p.Arg62Trp) | Missense | Rare | Impaired protein stability and ribosome assembly |
| c.322_324del (p.Lys108del) | In-frame deletion | Rare | Disrupts conserved domain, reduced mitochondrial translation |
Mutation functional classification
Loss of Function (LOF)
Most reported MRPS26 mutations are loss-of-function, leading to reduced mitoribosome assembly and impaired translation of mtDNA-encoded OXPHOS subunits.
Gain of Function (GOF)
No gain-of-function mutations reported for MRPS26.
Dominant Negative (DN)
No dominant-negative mutations reported; MRPS26 mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome (GO:0003735) | • mitochondrial small ribosomal subunit (GO:0005763) |
| • translation (GO:0006412) | • mitochondrial translation (GO:0032543) |
| • mitochondrion (GO:0005739) |
Pathways
• Mitochondrial translation (Reactome: R-HSA-5389840)
• Organelle biogenesis and maintenance (Reactome: R-HSA-1852241)
• Respiratory electron transport (Reactome: R-HSA-611105)
Protein Summary
MRPS26 is a 205-amino-acid protein (23.5 kDa) localized to the mitochondrial matrix. It is a component of the 28S small ribosomal subunit, where it interacts with 12S rRNA and other ribosomal proteins to form the decoding center. The protein contains a conserved ribosomal protein S26 domain and is essential for accurate initiation and elongation of mitochondrial translation. Defects in MRPS26 cause combined oxidative phosphorylation deficiency, typically presenting with early-onset neurological and muscular symptoms.
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