1 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
βGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
75PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
mitochondrial translationstructural constituent of ribosomeprotein bindingRNA bindingneurodegenerative diseaseAlzheimer diseaseParkinson diseaselysosomal storage disease
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.
1
MRPL45 identified as a candidate genetic variant in whole exome sequencing of hereditary angioedema patients with variable clinical phenotypes
PMID: 38679185β Limited data available β This gene has 1 indexed publication. Summary and analysis may be incomplete.
neurodegenerative diseaseOpen Targets
Alzheimer diseaseOpen Targets
lysosomal storage diseaseOpen Targets
multiple sclerosisOpen Targets
Parkinson diseaseOpen Targets
prostate carcinomaOpen Targets
gastric ulcerOpen Targets
hepatocellular carcinomaOpen Targets
myeloid sarcomaOpen Targets
dilated cardiomyopathyOpen Targets
papillary thyroid carcinomaOpen Targets
prostate cancerOpen Targets
triple-negative breast cancerOpen Targets
breast cancerOpen Targets
clear cell renal carcinomaOpen Targets
ovarian serous cystadenocarcinomaOpen Targets
thyroid cancer, nonmedullary, 1Open Targets
No pathogenic variants reported on ClinVar for this gene.
No tissue expression data available for this gene.