XRCC6 Gene

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XRCC6 Gene

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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.

--- [@caldecott2008]
title: XRCC6 Gene [@mckinnon2009]

--- [@kennedy2010]

<div class="infobox infobox-gene"> [@madabhushi2014]

| | |
|---|---|
| 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

Expression Pattern

...

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.

--- [@caldecott2008]
title: XRCC6 Gene [@mckinnon2009]

--- [@kennedy2010]

<div class="infobox infobox-gene"> [@madabhushi2014]

| | |
|---|---|
| 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

Expression Pattern

XRCC6 is expressed in:

[Hippocampus](/brain-regions/hippocampus)
Cerebral [cortex](/brain-regions/cortex)
Nucleus
Ubiquitous

Disease Associations

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 |

Key Mutations/Variants

R480W: functional studies
D519G: functional studies
G325D: functional studies

Therapeutic Implications

XRCC6 is relevant for therapeutic development:

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).

External Links

[NCBI Gene: XRCC6](https://www.ncbi.nlm.nih.gov/gene/7520)
[UniProt: XRCC6](https://www.uniprot.org/uniprotkb/P13010/entry)
[HGNC: XRCC6](https://www.genenames.org/data/hgnc_complete_set/)
[GeneCards: XRCC6](https://www.genecards.org/cgi-bin/carddisp.pl?gene=XRCC6)

Animal Models

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.

References

[Weake VM,Workman JL, Histone ubiquitination: triggering gene activity (2008)](https://pubmed.ncbi.nlm.nih.gov/18342533/)

[Caldecott KW, Single-strand break repair and genetic disease (2008)](https://pubmed.ncbi.nlm.nih.gov/18626473/)

[McKinnon PJ, DNA repair deficiency and neurological disease (2009)](https://pubmed.ncbi.nlm.nih.gov/19145234/)

[Kennedy L, Sheldon C, The role of DNA damage in neuronal dysfunction (2010)](https://pubmed.ncbi.nlm.nih.gov/20586829/)

[Madabhushi R, et al, Activity-induced DNA breaks govern neuronal function (2014)](https://pubmed.ncbi.nlm.nih.gov/25171411/)

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Related Entities

XRCC6

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📊 Evidence Profile

Evidence Balance

+0%

Certainty

25%

Debates

0

Incoming

5

Outgoing

11

0 supporting 0 contradicting 0 neutral

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📗 Cite This Artifact

XRCC6 Gene

XRCC6 Gene

Introduction

Overview

Normal Function

Expression Pattern

XRCC6 Gene

Introduction

Overview

Normal Function

Expression Pattern

Disease Associations

Key Mutations/Variants

Therapeutic Implications

Therapeutic Strategies

Key Publications

Pathway & Interaction Diagram

See Also

External Links

Animal Models

Research Directions

Background

References

💬 Discussion