MRPL24 Gene - Mitochondrial Ribosomal Protein L24
Essential component of the mitochondrial large ribosomal subunit, involved in mitochondrial translation and cellular energy production.
Gene Information Card
| Symbol | MRPL24 |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein L24 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.33 |
| NCBI Gene ID | 64977 ncbi.nlm.nih.gov/gene/64977 |
| Ensembl ID | ENSG00000143314 |
| UniProt ID | Q96A35 |
| OMIM ID | 611822 |
| HGNC ID | 14041 |
| Aliases | L24mt, MRP-L24, 39S ribosomal protein L24, mitochondrial |
Description
MRPL24 encodes a 39S subunit protein of the mitochondrial large ribosomal subunit. This protein is a component of the mitochondrial ribosome, which is responsible for the translation of mitochondrial DNA-encoded genes involved in oxidative phosphorylation. The protein is localized to the mitochondrion and plays a critical role in mitochondrial protein synthesis, thereby influencing cellular energy metabolism. Mutations or dysregulation of MRPL24 may contribute to mitochondrial dysfunction and related disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial respiratory chain deficiencies | Impaired mitochondrial translation due to MRPL24 defects can lead to reduced synthesis of respiratory chain subunits, causing energy production deficits. | Inferred from functional studies; direct clinical evidence limited. |
| Combined oxidative phosphorylation deficiency | MRPL24 mutations may disrupt mitochondrial ribosome assembly, leading to multiple respiratory chain complex deficiencies. | Reported in case studies; see OMIM and literature. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | High | High |
| Skeletal Muscle | High | High |
| Liver | Medium | Medium |
| Brain | Medium | Medium |
| Kidney | Medium | Medium |
| Pancreas | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | High | Cervical cancer cell line; high mitochondrial activity |
| HepG2 | Medium | Liver cancer cell line; moderate expression |
| SH-SY5Y | Medium | Neuroblastoma cell line; neuronal context |
| MCF7 | Low | Breast cancer cell line; lower mitochondrial content |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Potential loss of start codon, leading to truncated protein |
| c.245C>T (p.Pro82Leu) | Missense | Rare | May affect protein stability or ribosome assembly |
| c.389delA (p.Lys130Argfs*2) | Frameshift | Very rare | Predicted to cause loss of function via nonsense-mediated decay |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in MRPL24 are expected to impair mitochondrial translation, leading to reduced oxidative phosphorylation capacity and cellular energy deficiency.
Gain of Function (GOF)
No evidence of gain-of-function mutations; MRPL24 is not known to have oncogenic or activating mutations.
Dominant Negative (DN)
Dominant-negative effects are unlikely as MRPL24 functions as part of a large complex; haploinsufficiency may be more relevant.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome | • mitochondrial large ribosomal subunit |
| • translation | • mitochondrial translation |
| • ribosome biogenesis |
Pathways
• Mitochondrial translation
• Organellar biogenesis and maintenance
Protein Summary
MRPL24 is a 39S subunit protein of the mitochondrial large ribosomal subunit. It is synthesized in the cytoplasm and imported into mitochondria, where it assembles into the mitoribosome. The protein is essential for mitochondrial protein synthesis, particularly for the translation of membrane-embedded subunits of the oxidative phosphorylation complexes. MRPL24 has a conserved ribosomal protein domain and is ubiquitously expressed, with higher levels in tissues with high energy demand. Its dysfunction is linked to mitochondrial disorders, though clinical phenotypes are variable.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MRPL24 Knockout HEK293 Cell Line | EDJ-KQ51682 | Human | 79590 | Details Get a Quote |
| MRPL24 Knockout HeLa Cell Line | EDJ-KQ57187 | Human | 79590 | Details Get a Quote |
| MRPL24 Knockout A-549 Cell Line | EDJ-KQ65699 | Human | 79590 | Details Get a Quote |
| MRPL24 Knockout HCT 116 Cell Line | EDJ-KQ74119 | Human | 79590 | Details Get a Quote |
