DHX29
DHX29 is a human gene that encodes for the protein DHX29, a member of the DExH-box family of proteins. These proteins are characterized by a conserved motif known as the DExH-box, which is crucial for their function as RNA helicases. RNA helicases are enzymes that utilize the energy from ATP hydrolysis to unwind RNA molecules, a process that is essential for various aspects of RNA metabolism including RNA splicing, RNA transport, and RNA degradation.
Function[edit | edit source]
DHX29 is a unique RNA helicase as it is involved in the initiation of protein synthesis. It is required for the assembly of the 48S preinitiation complex, a key step in the process of protein synthesis. In the absence of DHX29, the 48S preinitiation complex cannot form properly, leading to a reduction in protein synthesis.
Clinical significance[edit | edit source]
Mutations in the DHX29 gene have been associated with a variety of human diseases. For example, a mutation in DHX29 has been linked to Diamond-Blackfan anemia, a rare genetic disorder characterized by a failure of the bone marrow to produce red blood cells. In addition, mutations in DHX29 have been implicated in certain types of cancer, including colorectal cancer and breast cancer.
Research[edit | edit source]
Research on DHX29 is ongoing, with scientists seeking to better understand its role in protein synthesis and disease. For example, studies are being conducted to determine how mutations in DHX29 contribute to the development of cancer and other diseases. In addition, researchers are investigating potential therapeutic strategies that target DHX29, with the aim of developing new treatments for diseases associated with mutations in this gene.
See also[edit | edit source]
- DExH-box proteins
- RNA helicase
- Protein synthesis
- Diamond-Blackfan anemia
- Colorectal cancer
- Breast cancer
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD