ZNF598

ZNF598 is a gene that encodes a protein in humans. This protein is a member of the zinc finger protein family and is known to play a crucial role in the regulation of ribosome-associated quality control (RQC).

Function

The ZNF598 protein is a E3 ubiquitin-protein ligase that plays a significant role in the RQC pathway. This pathway is activated when ribosomes stall during protein synthesis, which can occur due to errors in the mRNA sequence or the absence of a stop codon. The ZNF598 protein helps to ubiquitinate the stalled ribosome, marking it for degradation and preventing the production of potentially harmful proteins.

Clinical Significance

Mutations in the ZNF598 gene have been associated with various health conditions. For instance, a study found that a mutation in this gene could lead to neurodevelopmental disorders. Moreover, the ZNF598 protein's role in protein synthesis and degradation suggests that it may be involved in diseases related to protein misfolding, such as Alzheimer's disease and Parkinson's disease.

Research

Research on the ZNF598 gene and its encoded protein is ongoing, with scientists aiming to understand its exact role in the RQC pathway and how its dysfunction can lead to disease. This research could potentially lead to the development of new therapeutic strategies for diseases associated with protein misfolding.

See Also

• Zinc finger protein
• E3 ubiquitin-protein ligase
• Ribosome-associated quality control
• Protein synthesis
• Neurodevelopmental disorder
• Alzheimer's disease
• Parkinson's disease