GenAge entry for ERCC6 (Homo sapiens)

Gene name (HAGRID: 0092)

Potential relevance to the human ageing process

Entry selected based on evidence linking the gene product to a pathway or mechanism linked to ageing

Also known as CSB, ERCC6 is involved in DNA repair and perhaps DNA unwinding [0506]. ERCC6-null mice show skin cancer predisposition, reduced growth, and neurologic dysfunction [1768]. Mice mutant for ERCC6 and XPA die before weaning and display some signs of premature ageing included stunted growth, neurological dysfunction, retinal degeneration, cachexia, and kyphosis [1934]. Mutations in the human ERCC6 gene cause Cockayne syndrome type B, which can be considered a segmental progeroid syndrome even though it is more severe than the Cockayne syndrome type A caused by mutations in ERCC8. If indeed Cockayne syndrome is premature ageing, it is likely ERCC6 plays a role in human ageing [0238].

Cytogenetic information

Display region using the UCSC Genome Browser

Protein information

GO:0006350; transcription; Process
GO:0006355; regulation of transcription, DNA-dependent; Process
GO:0007605; sensory perception of sound; Process

GO:0000166; nucleotide binding; Function
GO:0003677; DNA binding; Function
GO:0004386; helicase activity; Function
GO:0005524; ATP binding; Function
GO:0016787; hydrolase activity; Function

Protein-protein interactions

Display interactions using the IGD

Retrieve sequences for ERCC6

Homologues in model organisms

HomoloGene (6279)

Selected references

[1934] van der Pluijm et al. (2007), Impaired genome maintenance suppresses the growth hormone--insulin-like growth factor 1 axis in mice with Cockayne syndrome, PubMed
[1855] Niedernhofer et al. (2006), A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis, PubMed
[1797] Tuo et al. (2006), Synergic effect of polymorphisms in ERCC6 5' flanking region and complement factor H on age-related macular degeneration predisposition, PubMed
[1607] Dolle et al. (2006), Increased genomic instability is not a prerequisite for shortened lifespan in DNA repair deficient mice, PubMed
[1537] Thorslund et al. (2005), Cooperation of the Cockayne syndrome group B protein and poly(ADP-ribose) polymerase 1 in the response to oxidative stress, PubMed
[1139] Kipling et al. (2004), What can progeroid syndromes tell us about human aging?, PubMed
[0506] Licht et al. (2003), Cockayne syndrome group B cellular and biochemical functions, PubMed
[0502] Stevnsner et al. (2002), Mitochondrial repair of 8-oxoguanine is deficient in Cockayne syndrome group B, PubMed
[0505] Bradsher et al. (2002), CSB is a component of RNA Pol I transcription, PubMed
[0503] Tuo et al. (2002), The cockayne syndrome group B gene product is involved in cellular repair of 8-hydroxyadenine in DNA, PubMed
[0646] Murai et al. (2001), Early postnatal ataxia and abnormal cerebellar development in mice lacking xeroderma pigmentosum group A and Cockayne syndrome group B DNA repair genes, PubMed
[0504] Brosh et al. (1999), The ATPase domain but not the acidic region of Cockayne syndrome group B gene product is essential for DNA repair, PubMed
[1768] van der Horst et al. (1997), Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition, PubMed
[0238] Pesce and Rothe (1996), The premature aging syndromes, PubMed
[0571] Habraken et al. (1996), Transcription factor TFIIH and DNA endonuclease Rad2 constitute yeast nucleotide excision repair factor 3: implications for nucleotide excision repair and Cockayne syndrome, PubMed
[0015] Henning et al. (1995), The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH, PubMed

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