Symplekin

Symplekin is a protein encoded by the *SYMK* gene located on the long arm of chromosome 17 (17q25.3). It belongs to the family of proteins involved in signal transduction and cytoskeletal organization, particularly those associated with the regulation of cell growth and survival. Symplekin is primarily known for its role in the DNA damage response, where it interacts with proteins such as ATM (ataxia-telangiectasia mutated) and RAD50, facilitating the repair of double-strand DNA breaks through pathways like non-homologous end joining (NHEJ).

Beyond its involvement in DNA repair, Symplekin is also implicated in the regulation of RNA splicing and the assembly of spliceosomes, suggesting a broader role in gene expression regulation. It has been linked to the stabilization of mRNA and the modulation of translation, particularly in response to cellular stress. Dysregulation of Symplekin has been associated with various pathological conditions, including cancer, where its altered expression or function can contribute to tumorigenesis by disrupting critical cellular checkpoints.

Research into Symplekin has also explored its potential as a therapeutic target. Given its involvement in DNA repair and cell survival pathways, studies have examined its role in cancer treatment resistance, particularly in response to chemotherapy and radiotherapy. However, its precise mechanisms and clinical implications remain areas of ongoing investigation. As of current knowledge, Symplekin continues to be studied for its multifaceted roles in cellular biology and its potential relevance to disease.