MRPL32: Mitochondrial Ribosomal Protein L32
A core component of the mitochondrial large ribosomal subunit essential for intra-mitochondrial protein synthesis
Gene Information Card
| Symbol | MRPL32 |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein L32 |
| Gene Type | Protein coding |
| Chromosomal Location | 7p14.1 |
| NCBI Gene ID | 64983 ncbi.nlm.nih.gov/gene/64983 |
| Ensembl ID | ENSG00000106591 |
| UniProt ID | Q9BYC8 |
| OMIM ID | 611839 |
| HGNC ID | 14035 |
| Aliases | L32mt, MRP-L32, 39S ribosomal protein L32, mitochondrial |
Description
MRPL32 encodes a 39S subunit protein of the mitochondrial ribosome. This protein is a component of the large ribosomal subunit (mt-LSU) and is essential for mitochondrial translation. MRPL32 is nuclear-encoded and imported into mitochondria, where it assembles with the 12S and 16S rRNAs and other ribosomal proteins to form functional mitoribosomes. The protein belongs to the L32P family of ribosomal proteins and is conserved across eukaryotes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency (unspecified) | Deficiency in MRPL32 may impair mitochondrial ribosome assembly, reducing translation of mtDNA-encoded OXPHOS subunits. | ClinVar: loss-of-function variants reported in patients with mitochondrial respiratory chain defects. |
| Mitochondrial encephalopathy | Disrupted mitochondrial protein synthesis leads to energy deficit in neural tissues. | Case reports: biallelic MRPL32 variants associated with Leigh-like syndrome. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 18.2 | High |
| Skeletal muscle | 15.7 | High |
| Liver | 12.1 | Medium |
| Brain | 10.5 | Medium |
| Kidney | 9.8 | Medium |
| Lung | 7.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.5 | High expression in embryonic kidney cells |
| HeLa | 12.0 | Moderate expression in cervical cancer cells |
| HepG2 | 11.3 | Moderate expression in liver cancer cells |
| K562 | 8.1 | Low expression in leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.215C>T (p.Pro72Leu) | Missense | <0.01% | Likely loss of function; reduced protein stability |
| c.346_347del (p.Leu116fs) | Frameshift | <0.01% | Loss of function; premature truncation |
| c.1A>G (p.Met1?) | Start loss | <0.01% | Loss of translation initiation |
Mutation functional classification
Loss of Function (LOF)
Most reported MRPL32 variants are loss-of-function, leading to reduced mitochondrial translation and OXPHOS deficiency.
Gain of Function (GOF)
No gain-of-function mutations have been described for MRPL32.
Dominant Negative (DN)
No dominant-negative effects reported; disease inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome (GO:0003735) | • mitochondrial large ribosomal subunit (GO:0005763) |
| • translation (GO:0006412) | • mitochondrial translation (GO:0032543) |
| • mitochondrion (GO:0005739) |
Pathways
• Mitochondrial translation (Reactome: R-HSA-5368287)
• Organelle biogenesis and maintenance (Reactome: R-HSA-1852241)
Protein Summary
MRPL32 is a 39S mitochondrial ribosomal protein (L32) that forms part of the large subunit of the mitoribosome. It is synthesized in the cytosol and imported into the mitochondrial matrix. The protein interacts with 16S rRNA and other mt-LSU proteins to facilitate the decoding of mitochondrial mRNAs. MRPL32 is essential for the synthesis of 13 subunits of the oxidative phosphorylation system encoded by the mitochondrial genome. Loss of MRPL32 function leads to impaired ATP production and mitochondrial disease phenotypes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MRPL32 Knockout HEK293 Cell Line | EDJ-KQ51636 | Human | 64983 | Details Get a Quote |
| MRPL32 Knockout HeLa Cell Line | EDJ-KQ57097 | Human | 64983 | Details Get a Quote |
| MRPL32 Knockout A-549 Cell Line | EDJ-KQ65610 | Human | 64983 | Details Get a Quote |
| MRPL32 Knockout HCT 116 Cell Line | EDJ-KQ74037 | Human | 64983 | Details Get a Quote |
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