ERCC5 Gene

ERCC5 Gene

Introduction

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">ERCC5 Gene</th>
</tr>
<tr>
<td class="label">Symbol</td>
<td><strong>ERCC5</strong></td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>ERCC5</td>
</tr>
<tr>
<td class="label">Type</td>
<td>Gene</td>
</tr>
<tr>
<td class="label">NCBI</td>
<td><a href="https://www.ncbi.nlm.nih.gov/gene/?term=ERCC5" target="_blank">Search NCBI</a></td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">1 edges</a></td>
</tr>
</table>

Ercc5 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.

{{- start}} [@odonovan1994]

{{- infobox [@ham2006]
| name = ERCC5 [@maynard2015]
| image = [@nouspikel2007]
| caption = DNA repair endonuclease XPG [@fuss2010]
| gene_symbol = ERCC5 [@wood2010]
| gene_name = ERCC excision repair 5, endonuclease [@kraemer2007]
| chromosome = 13
| locus = 13q33.2
| ncbi_gene_id = 2073
| omim_id = 133530
| ensembl_id = ENSG00000134899
| uniprot_id = P18080
| encoded_protein = ERCC5 Protein
}}

Overview

ERCC5 Gene

Introduction

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">ERCC5 Gene</th>
</tr>
<tr>
<td class="label">Symbol</td>
<td><strong>ERCC5</strong></td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>ERCC5</td>
</tr>
<tr>
<td class="label">Type</td>
<td>Gene</td>
</tr>
<tr>
<td class="label">NCBI</td>
<td><a href="https://www.ncbi.nlm.nih.gov/gene/?term=ERCC5" target="_blank">Search NCBI</a></td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">1 edges</a></td>
</tr>
</table>

Ercc5 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.

{{- start}} [@odonovan1994]

{{- infobox [@ham2006]
| name = ERCC5 [@maynard2015]
| image = [@nouspikel2007]
| caption = DNA repair endonuclease XPG [@fuss2010]
| gene_symbol = ERCC5 [@wood2010]
| gene_name = ERCC excision repair 5, endonuclease [@kraemer2007]
| chromosome = 13
| locus = 13q33.2
| ncbi_gene_id = 2073
| omim_id = 133530
| ensembl_id = ENSG00000134899
| uniprot_id = P18080
| encoded_protein = ERCC5 Protein
}}

Overview

The ERCC5 gene (also known as XPG) encodes a structure-specific endonuclease essential for nucleotide excision repair (NER). XPG cleaves 3' to DNA lesions during NER, completing the excision of the damaged oligonucleotide. ERCC5 mutations cause xeroderma pigmentosum (XP-G group) and Cockayne syndrome, with severe consequences including neurodegeneration and premature aging.

Function

ERCC5 (XPG) is a structure-specific endonuclease with essential roles in:

Nucleotide Excision Repair

• Recognizes and cleaves DNA 3' to various lesions
• Essential for complete removal of UV-induced pyrimidine dimers
• Removes bulky chemical adducts, crosslinks, and other distortions
• Part of the core NER machinery with ERCC1-ERCC4

Transcription-Coupled Repair (TCR)

• Specifically removes lesions from actively transcribed DNA strands
• Critical for preventing transcription-blocking damage in [neurons](/entities/neurons)
• Protects against RNA polymerase II stalling

Structure

• Contains N-terminal and C-terminal nuclease domains
• Recognizes DNA bubble structures
• Makes precise incisions at lesion boundaries

Disease Associations

Xeroderma Pigmentosum (XP-G)

• ERCC5 mutations cause XP complementation group G
• Extreme photosensitivity
• 10,000-fold increased skin cancer risk
• Variable neurological degeneration

Cockayne Syndrome (CS)

• ERCC5 mutations can cause CS type II
• Severe developmental defects
• Progeroid features
• Neurological dysfunction
• Sunlight-sensitive face

XP/CS Complex

• Some patients show features of both XP and CS
• Combined DNA repair defects
• Severe neurodegeneration

Neurodegeneration

• Progressive neuronal loss
• Ataxia and movement disorders
• Cognitive decline
• Hearing loss
• Retinal degeneration
• Accumulated DNA damage in neurons

Cancer

• Dramatically increased skin cancer risk
• Early onset skin malignancies

Expression

ERCC5 is expressed in most tissues:

• Highest levels in:
• Testis
• Ovary
• Brain
• Skin
• Moderate expression in:
• Liver
• Kidney
• Lung

• Detected in neurons and glia
• Important for maintaining neuronal genomic integrity
• Critical for transcription-coupled repair in long-lived neurons

Therapeutic Implications

Gene Therapy

• Viral vector-mediated ERCC5 delivery
• CRISPR-based gene correction approaches
• Promising for both XP and CS

Small Molecule Strategies

• DNA repair enhancers
• Neuroprotective agents
• Antioxidants
• Topical DNA repair enzymes for skin protection

Research Tools

• XPG-deficient cell lines for drug screening
• Mouse models for therapeutic testing

See Also

• [DNA Repair](/mechanisms/dna-repair-pathway)
• [Nucleotide Excision Repair](/mechanisms/nucleotide-excision-repair)
• [Transcription-Coupled Repair](/mechanisms/transcription-coupled-repair)
• [Cockayne Syndrome](/diseases/cockayne-syndrome)
• [Xeroderma Pigmentosum](/diseases/xeroderma-pigmentosum)
• [ERCC1 Gene](/genes/ercc1)
• [ERCC4 Gene](/genes/ercc4)

Background

The study of Ercc5 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.

External Links

• [PubMed](https://pubmed.ncbi.nlm.nih.gov/) - Biomedical literature
• [Alzheimer's Disease Neuroimaging Initiative](https://adni.loni.usc.edu/) - Research data
• [Allen Brain Atlas](https://brain-map.org/) - Brain gene expression data

References