Rabbit Anti-Human ERCC2 (C-terminal) Polyclonal antibody

Name: Rabbit Anti-Human ERCC2 (C-terminal) Polyclonal antibody
SKU: DPABH-01820
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Rabbit Anti-Human ERCC2 (C-terminal) Polyclonal antibody for WB

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COA

SDS

Datasheet

Key features and details

Specificity: ERCC2 Antibody detects endogenous levels of total ERCC2.
Host: Rabbit
Application: WB
Species Reactivity: Human, Mouse; Predicted: Pig, Zebrafish, Bovine, Sheep, Rabbit, Xenopus

Summary

Specifications

Antibody Isotype

IgG

Species Reactivity

Human; Mouse

Immunogen

A synthesized peptide derived from human ERCC2, corresponding to a region within C-terminal amino acids.

Conjugate

Unconjugated

Applications

Application Notes

WB 1:1000-3000

General Notes

This product (Catalog No. DPABH-01820) is a rabbit-derived polyclonal antibody raised against human ERCC2. This antibody exhibits cross-reactivity with ERCC2 from mouse. It has been affinity purified by Protein A. The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
DPABH-01820 is suitable for use in WB 1 (1000-3000) application.
DPABH-01820 is supplied as a liquid formulation in Phosphate buffered saline, pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol. For long-term storage, keep at −20 °C. For short-term use, store at 2–8 °C. Avoid repeated freeze–thaw cycles to maintain antibody integrity and performance.

Target

Entrez Gene ID

2068

UniProt ID

P18074

Citations

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Documents

pdf COA

pdf SDS

pdf Datasheet

QA & Reviews

Customer Reviews

References

Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer

PLOS GENETICS

Authors: Rump, Andreas; Benet-Pages, Anna; Schubert, Steffen; Kuhlmann, Jan Dominik; Janavicius, Ramunas; Machackova, Eva; Foretov, Lenka; Kleibl, Zdenek; Lhota, Filip; Zemankova, Petra; Betcheva-Krajcir, Elitza; Mackenroth, Luisa; Hackmann, Karl; Lehmann, Janin; Nissen, Anke; DiDonato, Nataliya; Opitz, Romy; Thiele, Holger; Kast, Karin; Wimberger, Pauline; Holinski-Feder, Elke; Emmert, Steffen; Schroeck, Evelin; Klink, Barbara

Abstract

The increasing application of gene panels for familial cancer susceptibility disorders will probably lead to an increased proposal of susceptibility gene candidates. Using ERCC2 DNA repair gene as an example, we show that proof of a possible role in cancer susceptibility requires a detailed dissection and characterization of the underlying mutations for genes with diverse cellular functions (in this case mainly DNA repair and basic cellular transcription). In case of ERCC2, panel sequencing of 1345 index cases from 587 German, 405 Lithuanian and 353 Czech families with breast and ovarian cancer (BC/OC) predisposition revealed 25 mutations (3 frameshift, 2 splice-affecting, 20 missense), all absent or very rare in the ExAC database. While 16 mutations were unique, 9 mutations showed up repeatedly with population-specific appearance. Ten out of eleven mutations that were tested exemplarily in cell-based functional assays exert diminished excision repair efficiency and/or decreased transcriptional activation capability. In order to provide evidence for BC/OC predisposition, we performed familial segregation analyses and screened ethnically matching controls. However, unlike the recently published RECQL example, none of our recurrent ERCC2 mutations showed convincing co-segregation with BC/OC or significant

SNPs in ERCC1, ERCC2, and XRCC1 genes of the DNA repair pathway and risk of male infertility in the Asian populations: association study, meta-analysis, and trial sequential analysis

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Authors: Singh, Vertika; Bansal, Sandeep Kumar; Sudhakar, D. V. S.; Neelabh; Chakraborty, Arijit; Trivedi, Sameer; Gupta, Gopal; Thangaraj, Kumarasamy; Rajender, Singh; Singh, Kiran

Abstract

PurposeWe investigated if substitutions in the ERCC1, ERCC2, and XRCC1 genes of the DNA repair pathway correlate with non-obstructive azoospermia and male infertility.MethodsA total of 548 azoospermic infertile males and 410 fertile controls were genotyped for XRCC1 399A>G, 280G>A, and ERCC1 C>A 3 UTR and 541 azoospermic infertile males and 416 fertile controls were genotyped for ERCC2 751A>C using iPLEX Gold Assay. Meta-analyses were performed on XRCC1 399A>G (1022 cases and 1004 controls), ERCC1 C>A 3 UTR (879 cases and 1059 controls), and ERCC2 751A>C (914 cases and 850 controls) polymorphisms to quantitatively estimate the significance of the association between these polymorphisms and the risk of infertility.ResultsStatistically significant association between ERCC2 751A>C SNP and male infertility was found using the codominant model (p=0.03). Results of meta-analysis suggested a lack of correlation with male infertility risk, which could be due to pooling of studies from different ethnic populations. Due to limited the number of studies, a stratified analysis for different ethnic groups could not be performed.Conclusion (s)In conclusion, AA genotype of 751A>C SNP in ERCC2 correlated with a higher risk of male infertility and may contribute to an increased risk of azoospermia and male infertility in Indian men.