DDX46

DDX46

The DDX46 gene

DDX46 is a gene that encodes a member of the DEAD-box RNA helicase family. It is also known as DEAD-box protein 46 or DDX46 RNA helicase. This gene is located on chromosome 17q21.33 and is conserved across various species, including humans.

Function

DDX46 plays a crucial role in RNA metabolism and processing. It functions as an ATP-dependent RNA helicase, which means it uses energy from ATP hydrolysis to unwind RNA duplexes and facilitate various RNA-related processes. DDX46 is involved in pre-mRNA splicing, ribosome biogenesis, and mRNA export from the nucleus to the cytoplasm.

Structure

The DDX46 gene spans approximately 20 kilobases and consists of 18 exons. The encoded protein has a molecular weight of around 100 kDa and contains several conserved domains characteristic of the DEAD-box RNA helicase family. These domains include the DEAD-box helicase core, which is responsible for ATP binding and hydrolysis, and the RNA-binding domain, which interacts with RNA molecules.

Role in Disease

Research has shown that DDX46 dysregulation or mutations can be associated with certain diseases. For example, aberrant expression of DDX46 has been observed in various types of cancer, including breast cancer and lung cancer. Additionally, mutations in the DDX46 gene have been linked to neurodevelopmental disorders, such as intellectual disability and autism spectrum disorders. Further studies are needed to fully understand the mechanisms by which DDX46 contributes to these diseases.

See Also

• RNA helicase
• ATP hydrolysis
• Pre-mRNA splicing
• Ribosome biogenesis
• mRNA export