DDX20

Description

The DDX20 (DEAD-box helicase 20) is a protein-coding gene located on chromosome 1.

DDX20 is a protein-coding gene that produces an enzyme called DEAD-box helicase 20. This enzyme is involved in various cellular processes related to RNA, including translation initiation, splicing, and ribosome assembly. DDX20 is particularly important for the function of the SMN complex, which is crucial for the assembly of snRNPs. The SMN complex plays a key role in splicing pre-mRNAs into mature mRNAs. DDX20 may act as a tumor suppressor in some cancers, like hepatocellular carcinoma, while acting as a tumor promoter in others, such as breast cancer. DDX20 deficiency can also lead to the dysregulation of microRNA machinery, which can contribute to the development of diseases like hepatocarcinogenesis and prostate cancer.

DDX20, also known as GEMIN3, is a component of the SMN complex, which is crucial for the assembly of small nuclear ribonucleoproteins (snRNPs). SnRNPs are the building blocks of the spliceosome, responsible for splicing cellular pre-mRNAs. DDX20 assists in the assembly of core snRNPs by accepting trapped Sm proteins from a chaperone protein called CLNS1A, forming an intermediate complex. When snRNA binds to this intermediate complex, it triggers the release of the SMN complex, allowing the final steps of core snRNP assembly to occur. DDX20 may also play a role in the metabolism of small nucleolar ribonucleoprotein (snoRNPs).

DDX20 is also known as DP103, GEMIN3.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing