WDR83
WDR83[edit | edit source]
WDR83 is a protein-coding gene that is also known as WD repeat domain 83. It is located on chromosome 16 in humans and is conserved across various species. The gene encodes a protein that plays a crucial role in cellular processes and has been implicated in several diseases.
Gene Structure and Function[edit | edit source]
The WDR83 gene spans approximately 15 kilobases and consists of 11 exons. It encodes a protein with a molecular weight of around 83 kilodaltons. The protein contains multiple WD40 repeat domains, which are known to mediate protein-protein interactions.
WDR83 is primarily localized in the nucleus and has been found to interact with various other proteins involved in transcriptional regulation and chromatin remodeling. It is believed to be involved in the assembly and maintenance of protein complexes that regulate gene expression.
Role in Disease[edit | edit source]
Mutations in the WDR83 gene have been associated with several diseases. One such disease is X-linked intellectual disability, a condition characterized by impaired cognitive function. Studies have shown that mutations in WDR83 disrupt normal brain development and function, leading to intellectual disabilities.
Additionally, WDR83 has been implicated in cancer progression. It has been found to interact with proteins involved in cell cycle regulation and DNA repair, suggesting its involvement in maintaining genomic stability. Dysregulation of WDR83 expression or function may contribute to the development and progression of various types of cancer.
References[edit | edit source]
See Also[edit | edit source]
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Contributors: Prab R. Tumpati, MD