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Updated: May 21, 2025

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Spliceosome protein EFTUD2: A potential pathogenetic factor in tumorigenesis and some developmental defects (Review)
Ankang Yin1, Qiuyu Zhu1, Yi Chen2
1School of Medical Technology and Information Engineering, Zhejiang Chinese Medical University, Hangzhou, Zhejiang 310053, P.R. China.
Molecular Medicine Reports
|March 21, 2025
Summary
Elongation factor Tu GTP binding domain containing 2 (EFTUD2) is crucial for mRNA splicing and regulates development and immunity. Mutations in EFTUD2 cause developmental defects and diseases, while its overexpression promotes cancer progression.
Area of Science:
- Molecular Biology
- Genetics
- Developmental Biology
Background:
- Mature messenger RNA (mRNA) formation relies on RNA precursor processing and spliceosome-mediated splicing.
- The spliceosome, a complex of five small nuclear ribonucleoproteins, facilitates intron removal from pre-mRNA.
- Elongation factor Tu GTP binding domain containing 2 (EFTUD2) is a key spliceosome component essential for its reorganization and function.
Purpose of the Study:
- To review the molecular mechanisms of EFTUD2's physiological functions.
- To focus on the clinical manifestations and molecular basis of EFTUD2 mutations.
- To provide insights for diagnosing and treating EFTUD2-related diseases.
Main Methods:
- Literature review of molecular mechanisms.
- Analysis of EFTUD2 mutations and associated clinical phenotypes.
- Discussion of EFTUD2's role in development, immunity, and cancer.
Main Results:
- EFTUD2 regulates embryonic development and innate immunity through mRNA splicing modulation.
- EFTUD2 mutations are linked to mandibulofacial dysostosis and affect multiple organ systems.
- Overexpression of EFTUD2 correlates with the progression of hepatocellular carcinoma, breast cancer, and colorectal cancer.
Conclusions:
- EFTUD2 plays a critical role in normal physiological processes and disease pathogenesis.
- Understanding EFTUD2's function and mutations is vital for clinical diagnosis and therapeutic strategies.
- This review highlights the significance of EFTUD2 in both normal development and oncogenesis.
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