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](https://www.ncbi.nlm.nih.gov/gene/7520) | | Ensembl ID | [ENSG00000105928](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000105928) | | OMIM ID | 194361 | | UniProt ID | [P13010](https://www.uniprot.org/uniprotkb/P13010/entry) |
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Overview
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.
Normal Function
The XRCC6 gene encodes X-Ray Repair Cross-Complementing 6 (Ku70), involved in DNA repair and genomic stability:
DNA repair: Critical for maintaining genomic integrity
Cell cycle regulation: Coordinates DNA repair with cell cycle progression
[Apoptosis](/entities/apoptosis): Modulates apoptotic response to DNA damage
Neuronal survival: Essential for long-term neuronal survival
Expression Pattern
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XRCC6 Gene
Introduction
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](https://www.ncbi.nlm.nih.gov/gene/7520) | | Ensembl ID | [ENSG00000105928](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000105928) | | OMIM ID | 194361 | | UniProt ID | [P13010](https://www.uniprot.org/uniprotkb/P13010/entry) |
</div>
Overview
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.
Normal Function
The XRCC6 gene encodes X-Ray Repair Cross-Complementing 6 (Ku70), involved in DNA repair and genomic stability:
DNA repair: Critical for maintaining genomic integrity
Cell cycle regulation: Coordinates DNA repair with cell cycle progression
[Apoptosis](/entities/apoptosis): Modulates apoptotic response to DNA damage
Neuronal survival: Essential for long-term neuronal survival
Neurodegenerative diseases: DNA repair deficits contribute to neuronal dysfunction
Cancer therapy: PARP inhibitors are synthetically lethal with BRCA2 deficiency
Aging: DNA repair decline is a hallmark of aging and neurodegeneration
Radiosensitivity: DNA repair capacity affects neuronal survival after injury
Therapeutic Strategies
| Strategy | Approach | Status | |----------|----------|--------| | Gene therapy | AAV-based delivery | Preclinical | | Small molecules | DNA repair enhancers | Research | | Combination therapy | PARP inhibitors + radiation | Clinical (cancer) |
Key Publications
DNA repair in neuronal function and dysfunction. Nature Reviews Neuroscience. PMID:2. Role of BRCA2 in neuronal genome stability. Cell. PMID:3. DNA damage response in neurodegenerative diseases. Brain. PMID
Pathway & Interaction Diagram
Interactive diagram showing XRCC6's key relationships in the SciDEX knowledge graph (8 connections shown).
XRCC6 knockout mice are embryonic lethal, demonstrating the essential role of Ku70 in development. Conditional knockout models in [neurons](/entities/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.
Research Directions
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.
Background
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.