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GeneE
1 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MRPL45
mitochondrial ribosomal protein L45
Chromosome 17 Β· 17q12
NCBI Gene: 84311Ensembl: ENSG00000278845.5HGNC: HGNC:16651UniProt: A0A087WU62
75PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mitochondrial translationstructural constituent of ribosomeprotein bindingRNA bindingneurodegenerative diseaseAlzheimer diseaseParkinson diseaselysosomal storage disease
✦AI Summary

Based on limited published evidence, MRPL45 is a mitochondrial ribosomal protein functioning as a structural constituent of the mitochondrial large ribosomal subunit. It localizes to the mitochondrial inner membrane and participates in mitochondrial translation through RNA binding and protein-protein interactions. MRPL45 was identified as a potential genetic modifier in a whole exome sequencing study of hereditary angioedema patients 1, though its specific role in this condition remains undefined.

Sources cited
1
MRPL45 identified as a candidate genetic variant in whole exome sequencing of hereditary angioedema patients with variable clinical phenotypes
PMID: 38679185
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.50Moderate
Alzheimer diseaseOpen Targets
0.33Weak
lysosomal storage diseaseOpen Targets
0.33Weak
multiple sclerosisOpen Targets
0.33Weak
Parkinson diseaseOpen Targets
0.33Weak
prostate carcinomaOpen Targets
0.27Weak
gastric ulcerOpen Targets
0.22Weak
hemorrhageOpen Targets
0.20Weak
hepatocellular carcinomaOpen Targets
0.01Suggestive
myeloid sarcomaOpen Targets
0.00Suggestive
dilated cardiomyopathyOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
papillary thyroid carcinomaOpen Targets
0.00Suggestive
prostate cancerOpen Targets
0.00Suggestive
sarcopeniaOpen Targets
0.00Suggestive
triple-negative breast cancerOpen Targets
0.00Suggestive
breast cancerOpen Targets
0.00Suggestive
clear cell renal carcinomaOpen Targets
0.00Suggestive
ovarian serous cystadenocarcinomaOpen Targets
0.00Suggestive
thyroid cancer, nonmedullary, 1Open Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes

No related genes found for this gene.

Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network

No interaction data available for this gene.

PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt B4DEF8
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.81LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.56 [0.39–0.81]
RankingsWhere MRPL45 stands among ~20K protein-coding genes
  • #6,345of 20,598
    Most Researched75
  • #6,755of 17,882
    Most Constrained (LOEUF)0.81
Genes detectedMRPL45
Sources retrieved1 papers
Response timeβ€”
πŸ“„ Sources
1
1
The CC2D2B is a novel genetic modifier of the clinical phenotype in patients with hereditary angioedema due to C1 inhibitor deficiency.
PMID: 38679185
Gene Β· 2024
1.00