ERCC6 Gene: Excision Repair Cross-Complementation Group 6
Key player in transcription-coupled nucleotide excision repair and Cockayne syndrome
Gene Information Card
| Symbol | ERCC6 |
|---|---|
| Full Name | ERCC excision repair 6, chromatin remodeling factor |
| Gene Type | Protein coding |
| Chromosomal Location | 10q11.23 |
| NCBI Gene ID | 2074 ncbi.nlm.nih.gov/gene/2074 |
| Ensembl ID | ENSG00000100219 |
| UniProt ID | Q03468 |
| OMIM ID | 609413 |
| HGNC ID | 3438 |
| Aliases | CSB, CKN2, COFS, RAD26, ARMD5, UVSS1 |
Description
ERCC6 (excision repair cross-complementation group 6) encodes a DNA-binding protein, CSB, essential for transcription-coupled nucleotide excision repair (TC-NER). It also functions in chromatin remodeling, transcription elongation, and base excision repair. Mutations in ERCC6 cause Cockayne syndrome type B, xeroderma pigmentosum group G, and cerebro-oculo-facio-skeletal syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cockayne syndrome type B (CSB) | Loss-of-function mutations impair TC-NER, leading to defective repair of UV-induced DNA damage and transcription-blocking lesions. | OMIM #133540; ClinVar |
| Xeroderma pigmentosum group G (XPG) | Mutations in ERCC6 can cause a severe form of XP with neurological involvement, due to combined NER and TC-NER defects. | OMIM #278780; ClinVar |
| Cerebro-oculo-facio-skeletal syndrome (COFS) | Biallelic ERCC6 mutations result in severe developmental and neurological abnormalities, with defective DNA repair. | OMIM #214150; ClinVar |
| UV-sensitive syndrome (UVSS) | Mutations in ERCC6 cause UVSS1, characterized by photosensitivity without neurological symptoms, due to partial TC-NER deficiency. | OMIM #614621; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adrenal gland | 8.2 | Medium |
| Brain | 6.5 | Medium |
| Skin | 12.1 | High |
| Lung | 7.8 | Medium |
| Testis | 15.3 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.5 | Cervical cancer cell line |
| A549 | 9.2 | Lung carcinoma cell line |
| HEK293 | 7.8 | Embryonic kidney cell line |
| K562 | 6.1 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2281C>T (p.Arg761*) | Nonsense | Rare (0.0001) | Loss of function; associated with Cockayne syndrome |
| c.3610C>T (p.Arg1204Trp) | Missense | Rare (0.0002) | Impaired TC-NER activity; linked to UV-sensitive syndrome |
| c.2032C>T (p.Arg678Cys) | Missense | Rare (0.0001) | Reduced chromatin remodeling; found in COFS |
| c.432+1G>A | Splice site | Rare (0.00005) | Exon skipping; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most ERCC6 mutations are loss-of-function (nonsense, frameshift, splice site), leading to truncated or absent CSB protein, causing severe TC-NER deficiency and Cockayne syndrome.
Gain of Function (GOF)
No gain-of-function mutations reported in ERCC6.
Dominant Negative (DN)
No dominant-negative mutations described; ERCC6-associated disorders are autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • DNA repair | • Transcription-coupled nucleotide excision repair |
| • Chromatin remodeling | • ATP-dependent chromatin remodeling |
| • Response to UV | • Transcription elongation by RNA polymerase II |
Pathways
• Transcription-coupled nucleotide excision repair (TC-NER)
• Nucleotide excision repair (NER)
• Base excision repair (BER)
• Chromatin remodeling
Protein Summary
The CSB protein (ERCC6) is a 1493-amino acid ATP-dependent chromatin remodeler that interacts with RNA polymerase II and repair factors to facilitate TC-NER. It also participates in transcription elongation, base excision repair, and mitochondrial DNA repair. CSB contains a helicase-like ATPase domain and a ubiquitin-binding domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ERCC6 Knockout HEK293 Cell Line | EDJ-KQ2368 | Human | 2074 | Details Get a Quote |
| ERCC6L2 Knockout HEK293 Cell Line | EDJ-KQ13313 | Human | 375748 | Details Get a Quote |
| ERCC6 Knockout A-549 Cell Line | EDJ-KQ22816 | Human | 2074 | Details Get a Quote |
| ERCC6 Knockout HCT 116 Cell Line | EDJ-KQ22817 | Human | 2074 | Details Get a Quote |
| ERCC6 Knockout HeLa Cell Line | EDJ-KQ22818 | Human | 2074 | Details Get a Quote |
| ERCC6L2 Knockout A-549 Cell Line | EDJ-KQ42774 | Human | 375748 | Details Get a Quote |
| ERCC6L2 Knockout HCT 116 Cell Line | EDJ-KQ42775 | Human | 375748 | Details Get a Quote |
| ERCC6L2 Knockout HeLa Cell Line | EDJ-KQ42776 | Human | 375748 | Details Get a Quote |
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