MRPL42
Mitochondrial Ribosomal Protein L42
Gene Information Card
| Symbol | MRPL42 |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein L42 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q22 |
| NCBI Gene ID | 28977 ncbi.nlm.nih.gov/gene/28977 |
| Ensembl ID | ENSG00000198010 |
| UniProt ID | Q9Y6N3 |
| OMIM ID | 611837 |
| HGNC ID | 14484 |
| Aliases | MRP-L42, L42mt, 5S-23S rRNA-binding protein, PTD007, RPML3 |
Description
MRPL42 encodes a 39S subunit protein of the mitochondrial ribosome. This ribosomal protein is a component of the large (39S) subunit and is involved in mitochondrial translation. The protein is a 5S-23S rRNA-binding protein essential for ribosome assembly and function. Mutations in MRPL42 have been associated with combined oxidative phosphorylation deficiency.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency 55 (COXPD55) | Loss-of-function mutations impair mitochondrial translation, leading to respiratory chain complex deficiencies. | ClinVar, OMIM |
| Mitochondrial complex I deficiency, nuclear type | Defective mitochondrial protein synthesis reduces complex I assembly and activity. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.8 | Medium |
| Liver | 9.2 | Medium |
| Kidney | 8.1 | Medium |
| Brain | 7.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.2 | High expression |
| HeLa | 11.5 | Medium expression |
| K562 | 9.8 | Medium expression |
| HepG2 | 8.6 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.350G>A (p.Arg117His) | Missense | Rare | Likely pathogenic; disrupts rRNA binding |
| c.424C>T (p.Arg142*) | Nonsense | Very rare | Loss of function; associated with COXPD55 |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no protein produced |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to truncated or absent protein, impairing mitochondrial translation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome (GO:0003735) | • mitochondrial large ribosomal subunit (GO:0005762) |
| • mitochondrial translation (GO:0032543) | • translation (GO:0006412) |
Pathways
• Mitochondrial translation (Reactome: R-HSA-5389840)
• Organelle biogenesis and maintenance (Reactome: R-HSA-1852241)
Protein Summary
MRPL42 is a 39S mitochondrial ribosomal protein (MRP) that binds 5S and 23S rRNA, contributing to the structural integrity of the large ribosomal subunit. It is essential for mitochondrial protein synthesis, which produces 13 subunits of the oxidative phosphorylation system. Defects in MRPL42 cause combined oxidative phosphorylation deficiency, leading to multisystem disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MRPL42 Knockout HEK293 Cell Line | EDJ-KQ51224 | Human | 28977 | Details Get a Quote |
| MRPL42 Knockout HeLa Cell Line | EDJ-KQ56081 | Human | 28977 | Details Get a Quote |
| MRPL42 Knockout A-549 Cell Line | EDJ-KQ64566 | Human | 28977 | Details Get a Quote |
| MRPL42 Knockout HCT 116 Cell Line | EDJ-KQ73021 | Human | 28977 | Details Get a Quote |
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