Xrcc6 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
| Gene Symbol | XRCC6 |
| Full Name | X-Ray Repair Cross-Complementing 6 (Ku70) |
| Chromosomal Location | 22q13.2 |
| NCBI Gene ID | 7520 |
| Ensembl ID | ENSG00000105928 |
| OMIM ID | 194361 |
| UniProt ID | P13010 |
XRCC6 (Ku70) is a subunit of the Ku heterodimer (Ku70/Ku80) that binds to DNA double-strand breaks and initiates non-homologous end joining (NHEJ) repair. Ku70/Ku80 is essential for V(D)J recombination, telomere maintenance, and genomic stability. Altered Ku expression is observed in aging and neurodegenerative diseases.
The XRCC6 gene encodes X-Ray Repair Cross-Complementing 6 (Ku70), involved in DNA repair and genomic stability:
XRCC6 is expressed in:
XRCC6 is implicated in:
| Disease | Association Type | Evidence |
|---|---|---|
| Alzheimer's Disease | Genetic/Expression | R480W |
| Parkinson's Disease | Genetic/Expression | R480W |
| Ataxia Telangiectasia | Genetic/Expression | R480W |
| DNA Damage Response Defects | Genetic/Expression | R480W |
XRCC6 is relevant for therapeutic development:
| Strategy | Approach | Status |
|---|---|---|
| Gene therapy | AAV-based delivery | Preclinical |
| Small molecules | DNA repair enhancers | Research |
| Combination therapy | PARP inhibitors + radiation | Clinical (cancer) |
XRCC6 knockout mice are embryonic lethal, demonstrating the essential role of Ku70 in development. Conditional knockout models in neurons show increased sensitivity to DNA damage, impaired neuronal survival, and behavioral deficits. Transgenic overexpression of XRCC6 improves neuronal resistance to oxidative stress and DNA damage. These models have been used to study the role of Ku70 in neurodegeneration and aging.
Current research focuses on understanding how XRCC6 variants contribute to neurodegenerative disease risk, the relationship between NHEJ repair capacity and neuronal survival, and developing therapeutic approaches to enhance Ku70 function in aging neurons. Studies are also investigating XRCC6 as a biomarker for neuronal DNA repair capacity.
The study of Xrcc6 Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.