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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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MRPL3
mitochondrial ribosomal protein L3
Chromosome 3 Β· 3q22.1
NCBI Gene: 11222Ensembl: ENSG00000114686.10HGNC: HGNC:10379UniProt: P09001
81PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mitochondrial large ribosomal subunitmitochondrionRNA bindingstructural constituent of ribosomecombined oxidative phosphorylation defect type 9neurodegenerative diseasedisturbance of skin sensationcutaneous lupus erythematosus
✦AI Summary

MRPL3 (mitochondrial ribosomal protein L3) is a nuclear-encoded component of the mitochondrial large ribosomal subunit that serves as a structural constituent essential for mitochondrial protein synthesis. The protein is critical for early embryonic development, as MRPL3 knockout results in successful implantation but severe developmental delay and failure to initiate gastrulation by embryonic day 7.5, accompanied by significantly reduced ATP production and compromised mitochondrial function 1. MRPL3 functions in mitochondrial translation and is involved in the expression of electron transport chain components 2. Disease associations include combined oxidative phosphorylation deficiency 9, and structural variants in MRPL3 can cause adult-onset neurodegeneration with memory impairment and stereotypical limbic system progression patterns 3. Clinically, MRPL3 shows promise as a biomarker in multiple cancers, being upregulated in pancreatic adenocarcinoma where it promotes cell growth and proliferation 2, and serving as a diagnostic and prognostic marker in breast cancer and hepatocellular carcinoma 45. In pediatric critical illness, MRPL3 expression changes are associated with recovery from multiple organ dysfunction syndrome 6, highlighting its broader clinical relevance beyond mitochondrial disorders.

Sources cited
1
MRPL3 knockout causes developmental delay, gastrulation failure, and reduced ATP production
PMID: 32376682
2
MRPL3 is involved in electron transport chain component expression and upregulated in pancreatic cancer
PMID: 40446627
3
MRPL3 structural variants cause adult-onset neurodegeneration with memory impairment
PMID: 32341096
4
MRPL3 serves as diagnostic and prognostic marker in breast cancer
PMID: 34341433
5
MRPL3 is upregulated and serves as diagnostic marker in hepatocellular carcinoma
PMID: 37407805
6
MRPL3 expression changes are associated with recovery from multiple organ dysfunction syndrome
PMID: 37533854
Disease Associationsβ“˜21
combined oxidative phosphorylation defect type 9Open Targets
0.74Strong
neurodegenerative diseaseOpen Targets
0.46Moderate
disturbance of skin sensationOpen Targets
0.33Weak
cutaneous lupus erythematosusOpen Targets
0.31Weak
mitochondrial diseaseOpen Targets
0.18Weak
heart conduction diseaseOpen Targets
0.16Weak
corneal ulcerOpen Targets
0.15Weak
hyperlipidemiaOpen Targets
0.13Weak
pneumococcal pneumoniaOpen Targets
0.13Weak
response to antihypertensive drugOpen Targets
0.11Weak
ProptosisOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.09Suggestive
Liver abscessOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.07Suggestive
chondromalaciaOpen Targets
0.07Suggestive
placenta praeviaOpen Targets
0.06Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.06Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.06Suggestive
Rh deficiency syndromeOpen Targets
0.06Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.06Suggestive
Combined oxidative phosphorylation deficiency 9UniProt
Pathogenic Variants5
NM_007208.4(MRPL3):c.93-2A>CLikely pathogenic
Combined oxidative phosphorylation defect type 9
β˜…β˜†β˜†β˜†2024
NM_007208.4(MRPL3):c.413_414del (p.Asn137_Cys138insTer)Likely pathogenic
Neonatal encephalopathy
β˜…β˜†β˜†β˜†2022β†’ Residue 137
NM_007208.4(MRPL3):c.950C>G (p.Pro317Arg)Likely pathogenic
Combined oxidative phosphorylation defect type 9|not provided
β˜…β˜†β˜†β˜†2019β†’ Residue 317
NM_007208.4(MRPL3):c.629+1G>APathogenic
not provided
β˜…β˜†β˜†β˜†2018
NM_007208.4(MRPL3):c.49del (p.Arg17fs)Pathogenic
Combined oxidative phosphorylation defect type 9
β˜†β˜†β˜†β˜†2019β†’ Residue 17
View on ClinVar β†—
Related Genes
SPG7Protein interaction100%IFI44LProtein interaction100%MRPS6Protein interaction100%MRPS9Protein interaction100%MRPL36Protein interaction100%MRPS16Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Heart
80%
Liver
72%
Ovary
60%
Lung
50%
Bone Marrow
40%
Gene Interaction Network
Click a node to explore
MRPL3SPG7IFI44LMRPS6MRPS9MRPL36MRPS16
PROTEIN STRUCTURE
Preparing viewer…
PDB7OF0 Β· 2.20 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.40LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.96 [0.67–1.40]
RankingsWhere MRPL3 stands among ~20K protein-coding genes
  • #5,876of 20,598
    Most Researched81
  • #3,538of 5,498
    Most Pathogenic Variants5
  • #14,524of 17,882
    Most Constrained (LOEUF)1.40
Genes detectedMRPL3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Mitochondrial ribosomal protein L3 (MRPL3): An early diagnostic biomarker and potential molecular target in pancreatic cancer.
PMID: 40446627
Transl Oncol Β· 2025
1.00
2
Transcriptomic profiles of multiple organ dysfunction syndrome phenotypes in pediatric critical influenza.
PMID: 37533854
Front Immunol Β· 2023
0.90
3
Nuclear-encoded mitochondrial ribosomal proteins are required to initiate gastrulation.
PMID: 32376682
Development Β· 2020
0.80
4
Structural Variant in Mitochondrial-Associated Gene (MRPL3) Induces Adult-Onset Neurodegeneration with Memory Impairment in the Mouse.
PMID: 32341096
J Neurosci Β· 2020
0.70
5
Analysis of the MRPL3, DNAJC13 and OFCC1 variants in Chinese Han patients with TS-CTD.
PMID: 22507240
Neurosci Lett Β· 2012
0.60