DDX47

Ideogram human chromosome 12

DDX47

DDX47 is a gene that encodes a protein belonging to the DEAD box protein family. This gene is located on chromosome 17 in humans. The protein encoded by DDX47 is involved in various cellular processes, including RNA metabolism and RNA splicing.

Function

The DDX47 protein is an ATP-dependent RNA helicase that plays a crucial role in RNA splicing. It is involved in unwinding RNA duplexes and remodeling RNA-protein complexes. DDX47 is essential for the proper processing of pre-mRNA molecules, ensuring accurate splicing and the production of functional mRNA.

Structure

The DDX47 protein contains conserved motifs characteristic of the DEAD box protein family, including the ATP-binding motif and the RNA-binding motif. These motifs are essential for the helicase activity of DDX47 and its interaction with RNA molecules.

Role in Disease

Mutations in the DDX47 gene have been associated with certain genetic disorders and diseases. Dysregulation of DDX47 expression or function can lead to defects in RNA splicing, which may contribute to the development of various diseases, including cancer and neurodegenerative disorders.

Interactions

DDX47 interacts with other proteins involved in RNA processing and splicing, forming complexes that regulate gene expression at the post-transcriptional level. These interactions are crucial for the proper functioning of the spliceosome and the accurate splicing of pre-mRNA molecules.