SMG8
Description
The SMG8 gene encodes a protein that plays a crucial role in the intricate process of mRNA surveillance, ensuring the quality control of messenger RNA molecules. This protein, known as SMG8, acts as a key component of the nonsense-mediated mRNA decay (NMD) pathway, a cellular mechanism that eliminates faulty mRNA transcripts containing premature stop codons. NMD prevents the production of truncated and potentially harmful proteins, maintaining cellular homeostasis. Beyond its involvement in NMD, SMG8 has been implicated in various cellular processes, including translation regulation, mRNA stability, and even DNA repair. Understanding the multifaceted functions of SMG8 is essential for unraveling the complex interplay of gene expression and cellular health.
Associated Diseases
- Myelodysplastic syndromes (MDS)
- Acute myeloid leukemia (AML)
- Neurodevelopmental disorders
- Cancer
- Spinal muscular atrophy (SMA)
- Retinitis pigmentosa
Did you know?
Mutations in the SMG8 gene can lead to the accumulation of abnormal proteins, potentially contributing to disease development.
