DDX56
Description
The DDX56 (DEAD-box helicase 56) is a protein-coding gene located on chromosome 7.
DDX56, a probable ATP-dependent RNA helicase, is encoded by the DDX56 gene in humans. It belongs to the DEAD box protein family, characterized by the conserved DEAD motif and implicated in various cellular processes involving RNA secondary structure alteration. DDX56 exhibits ATPase activity in the presence of polynucleotides and associates with nucleoplasmic 65S preribosomal particles. It is likely involved in ribosome synthesis, particularly during the assembly of the large 60S ribosomal subunit.
DDX56 is a nucleolar RNA helicase involved in diverse biological processes including innate immunity, ribosome biogenesis, and nucleolus organization. It plays a crucial role in maintaining nucleolar integrity in planarian stem cells. DDX56 is essential for embryonic stem cell proliferation, regulating ribosome assembly and interacting with the OCT4 and POU5F1 complex. It regulates antiviral innate immunity by inhibiting the nuclear translocation of IRF3, a key signaling protein, by disrupting its interaction with importin IPO5. DDX56 may also participate in later stages of pre-ribosomal particle processing to generate mature 60S ribosomal subunits. It exhibits intrinsic ATPase activity.
DDX56 is also known as DDX21, DDX26, NOH61.
Associated Diseases
- hypoparathyroidism, familial isolated, 2
- cancer
- familial isolated hyperparathyroidism
- pseudohypoparathyroidism type 2
- familial isolated hypoparathyroidism due to agenesis of parathyroid gland
