5'-3' exoribonuclease 2

5'-3' exoribonuclease 2 is an enzyme that in humans is encoded by the EXOSC10 gene. This enzyme is a component of the RNA exosome complex, which is involved in the degradation and processing of RNA molecules. The 5'-3' exoribonuclease 2 plays a crucial role in RNA metabolism and is essential for various cellular processes, including RNA processing, RNA turnover, and the regulation of gene expression.

Function

The primary function of 5'-3' exoribonuclease 2 is to degrade RNA molecules from the 5' end towards the 3' end. This activity is vital for the maintenance of RNA quality within the cell by removing defective RNA molecules and processing certain RNA species. The enzyme participates in the degradation of messenger RNA (mRNA), ribosomal RNA (rRNA), and other RNA molecules, thereby regulating their levels within the cell. It is also involved in the maturation of various RNA species, playing a role in the generation of functional RNA molecules necessary for protein synthesis and other cellular functions.

Structure

The 5'-3' exoribonuclease 2 is a part of the larger RNA exosome complex, which consists of multiple subunits. The EXOSC10 gene encodes for one of the core components of this complex. The structure of the RNA exosome complex, including 5'-3' exoribonuclease 2, has been elucidated through various techniques such as X-ray crystallography and cryo-electron microscopy. These studies have revealed that the complex has a ring-like structure, with the 5'-3' exoribonuclease 2 positioned to interact with RNA substrates for efficient degradation and processing.

Clinical Significance

Mutations in the EXOSC10 gene, which encodes the 5'-3' exoribonuclease 2, have been associated with various human diseases. These include Pontocerebellar hypoplasia, a condition characterized by the underdevelopment of the cerebellum and brainstem, leading to severe neurological impairments. The enzyme's role in RNA processing and turnover suggests that disruptions in its function can have widespread effects on cellular metabolism, potentially leading to disease.

Research

Ongoing research is focused on understanding the detailed mechanisms by which 5'-3' exoribonuclease 2 and the RNA exosome complex regulate RNA metabolism. Studies are also exploring the potential therapeutic applications of modulating this enzyme's activity in diseases associated with RNA dysregulation, such as cancer and neurodegenerative disorders.

See Also

• RNA exosome complex
• RNA metabolism
• Gene expression
• Pontocerebellar hypoplasia

External Links

• NCBI Gene: EXOSC10