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Validated All-in-One™ qPCR Primer for ERCC6(NM_001346440.2) Search again
Product ID:
HQP153434
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
ARMD5, CKN2, COFS, COFS1, CSB, CSB-PGBD3, POF11, RAD26, UVSS1
Gene Description:
ERCC excision repair 6, chromatin remodeling factor
Target Gene Accession:
NM_001346440.2(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Summary
This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The protein has ATP-stimulated ATPase activity; there are contradictory publications reporting presence or absence of helicase activity.
Gene References into function
- differential requirement for the ATPase domain of the Cockayne syndrome group B gene in the processing of UV-induced DNA damage and 8-oxoguanine lesions in human cells
- CSB is involved in cellular repair of 8-hydroxyadenine in DNA.
- Cockayne syndrome B protein(ERCC6) enhanced germ cell proliferation arrest and apoptosis, and increased embryonic lethality, suggesting its role in nucleotide excision repair.
- CSB is a component of RNA pol I transcription
- CS-B mutant cell lines had deficient transcription after oxidative stress. The CSB protein influenced the transcriptional regulation of certain genes. The ATPase function of CSB is biologically important as the ATPase mutants resemble the CS-B-null ones.
- DNA damage stabilizes interaction of CSB with the transcription elongation machinery
- no mutation in the CSB cDNA and a normal amount of CSB protein was detected in Kps3, a UV sensitive (UVsS) cell line obtained from an unrelated patient, indicating genetic heterogeneity in UVsS
- CSB binds DNA as a dimer: DNA wrapping and unwrapping allows CSB to actively alter the DNA double helix conformation, which could influence nucleosomes and other protein-DNA interactions
- results implicate CSB in the PARP-1 poly(ADP-ribosyl)ation response after oxidative stress and thus suggest a novel role of CSB in the cellular response to oxidative damage
- enzymatically active CSB has an apparent molecular mass of approximately 360 kDa, consistent with dimerization of CSB
- The Mutation of Cockayne Syndrome Group B can cause defective transcription-coupled repair and Cockayne syndrome .
- Data highlight the pivotal role of CSB in initiating the transcriptional program of certain genes after UV irradiation, and also may explain some of the complex traits of Cockayne syndrome patients.
- examines functional relationship between CSA and CSB in Cockayne syndrome
- Results describe age-related macular degeneration (AMD) genetic risk factors through identification of polymorphisms in ERCC6 and in complement factor H.
- indicate a general role for Cockayne syndrome group B protein (CSB) protein in maintenance and remodeling of chromatin structure and suggest that CS is a disease of transcriptional deregulation caused by misexpression of growth-suppressive
- Cockayne Syndrome A and B proteins (CSA) and (CSB) display differential roles in recruitment of transcription-coupled repair (TCR)-specific factors and assembly for TCR occurs without disruption of the UV-stalled RNA polymerase II (RNAPIIo).
- Purified recombinant Cockayne syndrome B protein and the major human apurinic/apyrimidinic endonuclease, APE1, physically and functionally interact.
- The results reveal the mechanism underlying CSB-mediated activation of ribosomal DNA transcription and link G9a-dependent histone methylation to Pol I transcription elongation through chromatin.
- ERCC6 rs3793784:C>G alters its transcriptional activity and may confer personalized susceptibility to lung cancer.
- SNPs associated with prognosis of lung cancer was mapped to ERCC6.
- results firstly suggest that the heterozygous and homozygous A allele of the ERCC6 codon 399 may be associated with the development of oral cancer and may be a novel useful marker for primary prevention and anticancer intervention.
- CSB is not required for the ubiquitylation of human RNA polymerase II.
- Genomic DNA sequencing of the CSB gene showed a homozygous deletion involving non-coding exon 1 and upstream regulatory sequences, but none of the coding exons
- a null mutation in the CSB gene may have a role in adult-onset neurological degeneration in a patient with Cockayne syndrome
- a domesticated PiggyBac-like transposon PGBD3, residing within intron 5 of the CSB gene, functions as an alternative 3' terminal exon
- a novel insertion mutation, c.1034-1035insT in exon 5 of the ERCC6 gene was identified
- Description of three additional cases of Cerebro-oculo-facio-skeletal syndrome with novel mutations in the CSB gene.
- Data show that truncated Cockayne syndrome B protein represses elongation by RNA polymerase I.
- Data show that CSB mutant cells are unable to react to hypoxic stimuli by properly activating the hypoxia-inducible factor-1 (HIF-1) pathway, a defect that is further enhanced in the event of a concomitant genotoxic stress.
- Genetic polymorphisms of the ERCC6 gene and its role in smoking related lung cancer was studied.
- Somatic mutation of ERCC6 is rare in common human cancers in the Korean population.