MRPS22: Mitochondrial Ribosomal Protein S22
A nuclear-encoded component of the mitochondrial small ribosomal subunit essential for mitochondrial translation and oxidative phosphorylation.
Gene Information Card
| Symbol | MRPS22 |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein S22 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q23 |
| NCBI Gene ID | 56945 ncbi.nlm.nih.gov/gene/56945 |
| Ensembl ID | ENSG00000122122 |
| UniProt ID | P82650 |
| OMIM ID | 611719 |
| HGNC ID | 14508 |
| Aliases | C3orf5, COXPD5, MRP-S22, S22mt |
Description
MRPS22 encodes a 28S mitochondrial ribosomal small subunit protein (S22). As a component of the mitochondrial ribosome (mitoribosome), it is essential for intramitochondrial protein synthesis, specifically translating the 13 polypeptides encoded by the mitochondrial genome that are critical for oxidative phosphorylation complex assembly. Mutations in MRPS22 cause combined oxidative phosphorylation deficiency type 5 (COXPD5), a severe multisystem disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency 5 (COXPD5) | Loss-of-function mutations impair mitochondrial translation, reducing synthesis of OXPHOS subunits, leading to energy deficiency. | ClinVar, OMIM #611719 |
| Leigh syndrome (associated phenotype) | Severe mitochondrial dysfunction due to defective translation; some MRPS22 variants present with Leigh-like neuropathology. | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal Muscle | 10.8 | Medium |
| Liver | 8.2 | Medium |
| Brain | 6.1 | Low |
| Kidney | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.3 | Ubiquitous expression |
| HEK293 | 11.0 | Moderate expression |
| K562 | 9.5 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.509G>A (p.Arg170His) | Missense | Rare | Loss of function; reduced mitochondrial translation |
| c.650C>T (p.Pro217Leu) | Missense | Rare | Loss of function; associated with COXPD5 |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of function; no protein produced |
Mutation functional classification
Loss of Function (LOF)
Most reported MRPS22 mutations are loss-of-function, leading to decreased mitoribosome assembly and impaired mitochondrial translation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome (GO:0003735) | • mitochondrial small ribosomal subunit (GO:0005763) |
| • mitochondrial translation (GO:0032543) | • mitochondrial inner membrane (GO:0005743) |
Pathways
• Mitochondrial translation (Reactome: R-HSA-5368287)
• Respiratory electron transport (Reactome: R-HSA-611105)
Protein Summary
MRPS22 is a 360-amino-acid protein (40.5 kDa) localized to the mitochondrial matrix. It is a component of the 28S small mitoribosomal subunit, which together with the 39S large subunit forms the 55S mitoribosome. The protein contains a conserved ribosomal S22 domain and is essential for accurate initiation and elongation of mitochondrial mRNA translation. Defects in MRPS22 disrupt the synthesis of OXPHOS subunits, particularly complex I and IV, leading to energy metabolism failure.
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