RAD51
Introduction
```mermaid
flowchart TD
classDef gene fill:#0a1f0a,stroke:#4caf50
classDef protein fill:#0a1929,stroke:#2196f3
classDef disease fill:#2d0f0f,stroke:#e91e63
classDef pathway fill:#3e2200,stroke:#ff9800
classDef mechanism fill:#1a0a1f,stroke:#9c27b0
classDef therapeutic fill:#e0f2f1,stroke:#009688
RAD51["RAD51"] -->|"implicated_in"| neurodegeneration["neurodegeneration"]
RAD51["RAD51"] ==>|"activates"| ATR["ATR"]
RAD51["RAD51"] ==>|"activates"| ATM["ATM"]
RAD51["RAD51"] ==>|"activates"| RAD54["RAD54"]
RAD51["RAD51"] ==>|"activates"| VCP["VCP"]
RAD51["RAD51"] ==>|"activates"| Als["Als"]
RAD51["RAD51"] ==>|"activates"| Ms["Ms"]
RAD51["RAD51"] ==>|"activates"| Cancer["Cancer"]
RAD51["RAD51"] ==>|"activates"| Tumor["Tumor"]
RAD51["RAD51"] ==>|"activates"| Ferroptosis["Ferroptosis"]
RAD51["RAD51"] -->|"regulates"| NF1["NF1"]
RAD51["RAD51"] -->|"regulates"| BRCA2["BRCA2"]
RAD51["RAD51"] -->|"regulates"| Cancer["Cancer"]
RAD51["RAD51"] -->|"regulates"| Ataxia["Ataxia"]
RAD51["RAD51"] ==>|"activates"| DNA["DNA"]
RAD51["RAD51"] -->|"degrades"| RAD54["RAD54"]
RAD51["RAD51"] -->|"involved_in"| Homologous_Recombination["Homologous Recombination"]
RAD51["RAD51"] ==>|"activates"| MCM8["MCM8"]
RAD51["RAD51"] ==>|"activates"| AND["AND"]
RAD51["RAD51"] ==>|"activates"| RFWD3["RFWD3"]
RAD51["RAD51"] ==>|"activates"| DNA_DAMAGE["DNA DAMAGE"]
RAD51["RAD51"] ==>|"activates"| HOMOLOGOUS_RECOMBINATION["HOMOLOGOUS RECOMBINATION"]
RAD51["RAD51"] -.->|"inhibits"|
...RAD51
Introduction
Mermaid diagram (expand to render)
<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">RAD51</th>
</tr>
<tr>
<td class="label">Gene Symbol</td>
<td>RAD51</td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>RAD51 Recombinase</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>15q15.1</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>[5888](https://www.ncbi.nlm.nih.gov/gene/5888)</td>
</tr>
<tr>
<td class="label">OMIM</td>
<td>[179520](https://www.omim.org/entry/179520)</td>
</tr>
<tr>
<td class="label">Ensembl ID</td>
<td>ENSG00000102009</td>
</tr>
<tr>
<td class="label">UniProt</td>
<td>[P43251](https://www.uniprot.org/uniprot/P43251)</td>
</tr>
<tr>
<td class="label">Associated Diseases</td>
<td>[ALS](/diseases/amyotrophic-lateral-sclerosis), [Parkinson's Disease](/diseases/parkinsons-disease), [Ataxia-telangiectasia](/diseases/ataxia-telangiectasia)</td>
</tr>
</table>
Rad51 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
--- [@rad2019]
title: RAD51 [@rad2020a]
:: infobox .infobox-gene
::
Overview
RAD51 (RAD51 Recombinase) is a gene encoding a key protein essential for homologous recombination (HR) repair of double-strand DNA breaks. Located on chromosome 15q15.1, RAD51 encodes a recombinase that forms nucleoprotein filaments on single-stranded DNA and mediates strand invasion during homologous recombination. This protein plays a crucial role in maintaining genomic stability, particularly in post-mitotic [neurons](/entities/neurons) that are particularly vulnerable to accumulated DNA damage due to their non-dividing state. RAD51 has been implicated in several neurodegenerative diseases including amyotrophic lateral sclerosis (ALS), Parkinson's disease, and ataxia-telangiectasia, where defects in DNA repair contribute to neuronal cell death.
Function
RAD51 is a recombinase protein essential for homologous recombination (HR) repair of double-strand DNA breaks. It forms nucleoprotein filaments on single-stranded DNA and mediates strand invasion during HR. RAD51 is crucial for maintaining genomic stability in post-mitotic neurons, which are particularly vulnerable to DNA damage accumulation [1](https://doi.org/10.1016/j.tins.2020.09.008).
Disease Associations
Amyotrophic Lateral Sclerosis (ALS)
Biallelic mutations in RAD51 cause a recessive form of ALS with progressive motor neuron degeneration. RAD51 deficiency leads to impaired DNA repair, increased genomic instability, and sensitivity to DNA-damaging agents in neurons [2](https://doi.org/10.1093/brain/awz381).
Parkinson's Disease
Recent studies have identified RAD51 variants associated with increased risk for Parkinson's disease. RAD51 dysfunction may contribute to mitochondrial DNA damage and dopaminergic neuron vulnerability [3](https://doi.org/10.1002/mds.28572).
Ataxia-Telangiectasia
While primarily caused by ATM mutations, RAD51 dysfunction can modify the disease phenotype and contribute to neurodegeneration in ataxia-telangiectasia.
Expression
RAD51 is expressed in all brain regions, with particularly high expression in dopaminergic neurons of the substantia nigra, motor [cortex](/brain-regions/cortex), and hippocampal neurons. Expression is cell cycle-regulated and increases in response to DNA damage.
Key Publications
[RAD51 in neuronal DNA repair (2020)](https://doi.org/10.1016/j.tins.2020.09.008)
[RAD51 mutations causing ALS (2019)](https://doi.org/10.1093/brain/awz381)
[RAD51 and PD risk (2020)](https://doi.org/10.1002/mds.28572)Background
The study of Rad51 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.
See Also
- [RAD51 Protein](/proteins/rad51-protein)
- [Amyotrophic Lateral Sclerosis](/diseases/amyotrophic-lateral-sclerosis)
- [Parkinson's Disease](/diseases/parkinsons-disease)
- [Ataxia-Telangiectasia](/diseases/ataxia-telangiectasia)
- [DNA Repair Pathways](/mechanisms/dna-damage-response-neurodegeneration) Genomic Instability in Neurodegeneration
External Links
- [RAD51 Gene - NCBI](https://www.ncbi.nlm.nih.gov/gene/5888)
- [RAD51 - UniProt](https://www.uniprot.org/uniprot/P43251)
- [RAD51 - Ensembl](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000102009)
- [OMIM: RAD51](https://www.omim.org/entry/179520)
Cross-Links
- [RAD51 Protein](/proteins/rad51-protein)
- [Amyotrophic Lateral Sclerosis](/diseases/amyotrophic-lateral-sclerosis)
- [- [DNA Repair Pathways](/mechanisms/dna-damage-response-neurodegeneration)/diseases/parkinsons-disease)
- [DNA Repair Pathways](/mechanisms/dna-damage-response-neurodegeneration)
References
[Unknown, RAD51 in neuronal DNA repair (2020) (2020)](https://doi.org/10.1016/j.tins.2020.09.008)
[Unknown, RAD51 mutations causing ALS (2019) (2019)](https://doi.org/10.1093/brain/awz381)
[Unknown, RAD51 and PD risk (2020) (2020)](https://doi.org/10.1002/mds.28572)Pathway Diagram
The following diagram shows the key molecular relationships involving RAD51 discovered through SciDEX knowledge graph analysis:
Mermaid diagram (expand to render)