Xrcc7 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.
The XRCC7 gene (also known as DNA-PKcs) encodes the catalytic subunit of the DNA-dependent protein kinase (DNA-PK), a core component of the non-homologous end joining (NHEJ) pathway. DNA-PKcs is essential for repairing DNA double-strand breaks via NHEJ.
| Attribute | Value |
|---|---|
| Symbol | XRCC7 (DNA-PKcs) |
| Full Name | X-Ray Repair Cross-Complementing 7 / DNA-PK Catalytic Subunit |
| Chromosomal Location | 8q24.21 |
| NCBI Gene ID | 5591 |
| OMIM | 604743 |
| Ensembl ID | ENSG00000137413 |
| UniProt | P78527 |
DNA-PK (DNA-PKcs + Ku70/Ku80) is the central machinery for NHEJ:
| Disease | Mechanism | Evidence |
|---|---|---|
| Alzheimer's Disease | Impaired NHEJ leads to accumulation of neuronal DNA double-strand breaks | PMID: 10.1016/j.neurobiolaging.2020.02.012 |
| Parkinson's Disease | DNA repair defects contribute to dopaminergic neuron vulnerability | PMID: 10.1002/mds.23467 |
| Ataxia-Telangiectasia | Synergy with ATM deficiency exacerbates neurodegeneration | PMID: 10.1002/ajmg.a.38440 |
DNA-PKcs overexpression is common in cancers and correlates with:
Defects cause severe combined immunodeficiency (SCID) due to V(D)J recombination failure.
DNA-PKcs is a major therapeutic target:
The study of Xrcc7 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.