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GeneE
3 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MRPL46
mitochondrial ribosomal protein L46
Chromosome 15 Β· 15q25.3
NCBI Gene: 26589Ensembl: ENSG00000259494.3HGNC: HGNC:1192UniProt: Q9H2W6
78PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mitochondrionmitochondrial large ribosomal subunitstructural constituent of ribosomemitochondrial translationneurodegenerative diseaseprostate cancerFamilial prostate cancerhyperthyroidism
✦AI Summary

MRPL46 is a mitochondrial ribosomal protein component of the large subunit (60S) involved in mitochondrial translation 1. The protein is encoded by the C15orf4 gene, which shows evolutionary conservation across species and is positioned on chromosome 15 1. MRPL46 functions as a structural constituent of the mitochondrial ribosome, contributing to the translational machinery in the mitochondrial matrix. Disease relevance has emerged through multi-omics studies linking MRPL46 to major depressive disorder (MDD). Elevated methylation of MRPL46 (cg00200755) is associated with increased MDD risk, suggesting epigenetic regulation of mitochondrial translation capacity may influence neuropsychiatric phenotypes 2. Additionally, MRPL46 has been identified as a candidate biomarker in schizophrenia-associated cognitive impairment, with expression levels negatively correlated with natural killer cell infiltration in affected individuals 3. These associations suggest mitochondrial dysfunction through altered expression of ribosomal proteins may contribute to neuropsychiatric disease pathophysiology. Clinically, MRPL46 represents a potential therapeutic target for addressing mitochondrial dysfunction in mood and cognitive disorders, though mechanistic validation in larger cohorts remains necessary.

Sources cited
1
MRPL46 (C15orf4) is a mitochondrial ribosomal protein with homology to yeast YmL30, located on chromosome 15q24, encoding a 31.7 kDa protein
PMID: 11761714
2
MRPL46 methylation (cg00200755) is causally associated with increased risk of major depressive disorder through mitochondrial dysfunction
PMID: 40274126
3
MRPL46 is a candidate biomarker in schizophrenia-associated cognitive impairment with expression negatively correlated with natural killer cell infiltration
PMID: 41398832
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.32Weak
Familial prostate cancerOpen Targets
0.11Weak
prostate cancerOpen Targets
0.11Weak
hyperthyroidismOpen Targets
0.08Suggestive
chronic pancreatitisOpen Targets
0.07Suggestive
subarachnoid hemorrhageOpen Targets
0.05Suggestive
vascular diseaseOpen Targets
0.04Suggestive
Abruptio PlacentaeOpen Targets
0.02Suggestive
major depressive disorderOpen Targets
0.02Suggestive
hypertrophic cardiomyopathyOpen Targets
0.02Suggestive
mucositisOpen Targets
0.02Suggestive
stomatitisOpen Targets
0.02Suggestive
foreign bodyOpen Targets
0.02Suggestive
HypertoniaOpen Targets
0.02Suggestive
Laurence-Moon syndromeOpen Targets
0.01Suggestive
depressive disorderOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.00Suggestive
ovarian cancerOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
schizophreniaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
CHCHD1Shared pathway100%MRPS34Shared pathway100%MRPS24Shared pathway100%MRPS26Shared pathway100%MRPS6Protein interaction100%MRPS9Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Heart
59%
Ovary
44%
Lung
28%
Brain
25%
Bone Marrow
12%
Gene Interaction Network
Click a node to explore
MRPL46CHCHD1MRPS34MRPS24MRPS26MRPS6MRPS9
PROTEIN STRUCTURE
Preparing viewer…
PDB7OF0 Β· 2.20 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.13LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.81 [0.60–1.13]
RankingsWhere MRPL46 stands among ~20K protein-coding genes
  • #6,087of 20,598
    Most Researched78
  • #11,681of 17,882
    Most Constrained (LOEUF)1.13
Genes detectedMRPL46
Sources retrieved3 papers
Response timeβ€”
πŸ“„ Sources
3
1
Identification of mitochondrial-related causal genes for major depression disorder via integrating multi-omics.
PMID: 40274126
J Affect Disord Β· 2025
1.00
2
APOA1BP and natural killer cells as diagnostic and pathophysiological biomarkers in schizophrenia-associated cognitive impairment: A multi-cohort bioinformatics analysis.
PMID: 41398832
Medicine (Baltimore) Β· 2025
0.67
3
Cloning, mapping and expression analysis of C15orf4, a novel human gene with homology to the yeast mitochondrial ribosomal protein Ym130 gene.
PMID: 11761714
DNA Seq Β· 2001
0.33