DDX52

DDX52

The DDX52 gene

DDX52 is a gene that is found in humans and is located on chromosome 19. It belongs to the DEAD-box RNA helicase family, which is a group of proteins involved in various aspects of RNA metabolism. DDX52 plays a crucial role in RNA processing and is known to be involved in several cellular processes.

Structure and Function

The DDX52 gene spans approximately 10 kilobases and consists of 10 exons. The encoded protein, also known as DDX52 RNA helicase, is composed of 623 amino acids. It contains conserved motifs characteristic of the DEAD-box RNA helicase family, including the ATP-binding domain and the RNA-binding domain.

As an RNA helicase, DDX52 is involved in unwinding RNA duplexes and facilitating RNA-RNA interactions. It plays a crucial role in various RNA processing events, such as pre-mRNA splicing, ribosome biogenesis, and mRNA export from the nucleus to the cytoplasm. DDX52 is also involved in the regulation of translation initiation and mRNA decay.

Role in Disease

Research has shown that DDX52 dysregulation can contribute to the development of certain diseases. For example, aberrant expression of DDX52 has been observed in various types of cancer, including breast cancer, lung cancer, and colorectal cancer. In these cases, DDX52 may promote tumor growth and metastasis by affecting RNA processing and translation regulation.

Furthermore, mutations in the DDX52 gene have been associated with certain genetic disorders. For instance, a specific mutation in DDX52 has been linked to a rare neurodevelopmental disorder characterized by intellectual disability and speech delay. This highlights the importance of DDX52 in normal brain development and function.

See Also

• RNA helicase
• Chromosome 19
• Pre-mRNA splicing
• Ribosome biogenesis
• Translation regulation
• Genetic disorders