ERCC6 — Excision Repair Cross-Complementation Group 6

Migration, Crosslink

📖

ERCC6 — Excision Repair Cross-Complementation Group 6

active

wiki page Created: 2026-04-02T07:19:28 By: crosslink-migration Quality: 50% ✓ SciDEX ID: wiki-genes-ercc6

📖 Wiki Page

gene729 wordssynced 2026-04-02

ERCC6 — Excision Repair Cross-Complementation Group 6

Introduction

Ercc6 — Excision Repair Cross Complementation Group 6 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.

Overview

The ERCC6 (Excision Repair Cross-Complementation Group 6) gene, also known as Cockayne Syndrome B (CSB), encodes a protein critical for transcription-coupled nucleotide excision repair (TC-NER). Mutations in ERCC6 cause Cockayne syndrome, a severe disorder characterized by premature aging and neurodegeneration. [@troelstra1992]

Gene Information

<div class="infobox infobox-gene"> [@brooks2008]
<table> [@citterio2000]
<tr><th>Gene Symbol</th><td>ERCC6</td></tr> [@nardo2019]
<tr><th>Full Name</th><td>Excision Repair Cross-Complementation Group 6 (Cockayne Syndrome B)</td></tr> [@lans2019]
<tr><th>Chromosomal Location</th><td>10q11.23</td></tr> [@maynard2015]
<tr><th>NCBI Gene ID</th><td>[2073](https://www.ncbi.nlm.nih.gov/gene/2073)</td></tr> [@weissman2007]
<tr><th>OMIM</th><td>[133540](https://www.omim.org/entry/133540)</td></tr>
<tr><th>Ensembl ID</th><td>ENSG00000225830</td></tr>
<tr><th>UniProt ID</th><td>[Q03468](https://www.uniprot.org/uniprot/Q03468)</td></tr>
<tr><th>Associated Diseases</th><td>Cockayne Syndrome Type II, UV-Sensitive Syndrome</td></tr>
</table>
</div>

Function

The ERCC6/CSB protein is a key regulator of transcription-coupled DNA repair:

...

ERCC6 — Excision Repair Cross-Complementation Group 6

Introduction

Ercc6 — Excision Repair Cross Complementation Group 6 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.

Overview

The ERCC6 (Excision Repair Cross-Complementation Group 6) gene, also known as Cockayne Syndrome B (CSB), encodes a protein critical for transcription-coupled nucleotide excision repair (TC-NER). Mutations in ERCC6 cause Cockayne syndrome, a severe disorder characterized by premature aging and neurodegeneration. [@troelstra1992]

Gene Information

<div class="infobox infobox-gene"> [@brooks2008]
<table> [@citterio2000]
<tr><th>Gene Symbol</th><td>ERCC6</td></tr> [@nardo2019]
<tr><th>Full Name</th><td>Excision Repair Cross-Complementation Group 6 (Cockayne Syndrome B)</td></tr> [@lans2019]
<tr><th>Chromosomal Location</th><td>10q11.23</td></tr> [@maynard2015]
<tr><th>NCBI Gene ID</th><td>[2073](https://www.ncbi.nlm.nih.gov/gene/2073)</td></tr> [@weissman2007]
<tr><th>OMIM</th><td>[133540](https://www.omim.org/entry/133540)</td></tr>
<tr><th>Ensembl ID</th><td>ENSG00000225830</td></tr>
<tr><th>UniProt ID</th><td>[Q03468](https://www.uniprot.org/uniprot/Q03468)</td></tr>
<tr><th>Associated Diseases</th><td>Cockayne Syndrome Type II, UV-Sensitive Syndrome</td></tr>
</table>
</div>

Function

The ERCC6/CSB protein is a key regulator of transcription-coupled DNA repair:

Transcription-Coupled Repair (TC-NER)

Initiates TC-NER when RNA polymerase II stalls at DNA lesions
Recruits repair machinery to actively transcribed genes
Removes blocking lesions from the transcribed strand
Essential for maintaining transcriptional fidelity

Chromatin Remodeling

Possesses ATP-dependent chromatin remodeling activity
Facilitates access of repair proteins to DNA
Modifies nucleosome structure around damage sites
Works with [histone modifications](/entities/histone-modifications) to promote repair

Transcriptional Regulation

Functions as a transcriptional coactivator
Interacts with RNA polymerase II and general transcription factors
Modulates gene expression in response to DNA damage
Involved in basal transcription machinery

Mitochondrial Function

Important for mitochondrial DNA repair
Maintains mitochondrial genome integrity
Affects mitochondrial biogenesis

Disease Associations

Cockayne Syndrome (CS)

Mutations in ERCC6 cause classic Cockayne syndrome:

Severe growth failure after birth
Neurological dysfunction and developmental delay
Progressive motor impairment
Photosensitivity (without pigmentation)
Premature aging phenotype
Cachexia
Short lifespan (typically 5-7 years)

UV-Sensitive Syndrome (UVSS)

Milder phenotype with photosensitivity
Minimal neurological involvement
Similar cellular repair defects

Neurological Implications

Progressive neurodegeneration is hallmark
Neuronal loss in cerebellum and brainstem
Demyelination and calcifications
Mouse models show accelerated aging
Implications for sporadic neurodegeneration

Research Implications

Model for understanding aging processes
Insights into DNA repair and neurodegeneration
Potential therapeutic targets

Expression

Brain Expression

High expression in [neurons](/entities/neurons) of [cortex](/brain-regions/cortex), [hippocampus](/brain-regions/hippocampus), cerebellum
Expressed in glial cells
Upregulated in response to DNA damage
Essential for neuronal homeostasis

Cellular Localization

Nuclear localization
Associates with transcription machinery
Found at sites of DNA damage
Some mitochondrial localization

Therapeutic Implications

Current Approaches

No effective treatment available
Supportive care for symptoms
Gene therapy being explored
Small molecule screening for modulators

Research Directions

Enhancing DNA repair capacity
Antioxidant therapies
Mitochondrial function preservation
Gene replacement strategies

Key Publications

van der Horst GT, et al. (1997). "ERCC6, a new DNA repair protein." Cell. [DOI:10.1016/S0092-8674(00)80189-0](https://doi.org/10.1016/S0092-8674(00)80189-0)

Troelstra C, et al. (1992). "ERCC6, a human DNA repair gene for Cockayne syndrome." Science. [DOI:10.1126/science.1565644](https://doi.org/10.1126/science.1565644)

Brooks PJ. (2008). "The 8,5'-cyclopurine-2'-deoxynucleosides: candidate neurodegenerative DNA lesions in xeroderma pigmentosum, and DNA repair, with a potential role in etiology of [Alzheimer's disease](/diseases/alzheimers-disease)." DNA Repair (Amst). [DOI:10.1016/j.dnarep.2008.04.010](https://doi.org/10.1016/j.dnarep.2008.04.010)

Citterio E, et al. (2000). "Chromatin remodeling and transcription factor access to DNA." Mol Cell Biol. [DOI:10.1128/MCB.20.9.3113-3124.2000](https://doi.org/10.1128/MCB.20.9.3113-3124.2000)

Nardo T, et al. (2019). "ERCC6L2 and DNA repair." DNA Repair (Amst). [DOI:10.1016/j.dnarep.2019.102661](https://doi.org/10.1016/j.dnarep.2019.102661)

Background

The study of Ercc6 — Excision Repair Cross Complementation Group 6 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

[NCBI Gene: ERCC6](https://www.ncbi.nlm.nih.gov/gene/2073)
[UniProt: ERCC6/CSB](https://www.uniprot.org/uniprot/Q03468)
[OMIM: ERCC6](https://www.omim.org/entry/133540)
[Ensembl: ERCC6](https://www.ensembl.org/Homo_sapiens/ENSG00000225830)

References

[Bohr VA, et al, (1985) (1985)](https://doi.org/10.1016/0092-8674(85)

[Troelstra C, et al, (1992) (1992)](https://doi.org/10.1126/science.1565644)

[Brooks PJ, (2008) (2008)](https://doi.org/10.1016/j.dnarep.2008.04.010)

[Citterio E, et al, (2000) (2000)](https://doi.org/10.1128/MCB.20.9.3113-3124.2000)

[Nardo T, et al, (2019) (2019)](https://doi.org/10.1016/j.dnarep.2019.102661)

[Lans H, et al, (2019) (2019)](https://doi.org/10.1038/s41583-019-0124-4)

[Maynard S, et al, (2015) (2015)](https://doi.org/10.1111/acel.12320)

[Weissman L, et al, (2007) (2007)](https://doi.org/10.1016/j.arr.2007.04.001)

📖 View canonical wiki page →

Related Entities

ERCC6

▸Metadataorigin_type: v1_polymorphic_backfill

slug	genes-ercc6
kg_node_id	ERCC6
entity_type	gene
origin_type	v1_polymorphic_backfill
source_table	wiki_pages
wiki_page_id	wp-ebef317f7ef4
__merged_from	{'merged_at': '2026-05-13', 'unprefixed_id': 'genes-ercc6'}
_schema_version	1

📊 Evidence Profile Foundational

Evidence Balance

+0%

Certainty

80%

Debates

0

Incoming

16

Outgoing

17

0 supporting 0 contradicting 0 neutral

View full evidence profile →

Public annotations (0)Annotate on Hypothes.is →

No public annotations yet.

📗 Cite This Artifact

ERCC6 — Excision Repair Cross-Complementation Group 6

ERCC6 — Excision Repair Cross-Complementation Group 6

Introduction

Overview

Gene Information

Function

ERCC6 — Excision Repair Cross-Complementation Group 6

Introduction

Overview

Gene Information

Function

Transcription-Coupled Repair (TC-NER)

Chromatin Remodeling

Transcriptional Regulation

Mitochondrial Function

Disease Associations

Cockayne Syndrome (CS)

UV-Sensitive Syndrome (UVSS)

Neurological Implications

Research Implications

Expression

Brain Expression

Cellular Localization

Therapeutic Implications

Current Approaches

Research Directions

See Also

Key Publications

Background

External Links

References

💬 Discussion