Anti-XPD/ERCC2 Antibody Picoband®

ERCC2, or XPD is a protein involved in transcription-coupled nucleotide excision repair. 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.

Transcriptional regulator (PubMed:20121949) . Recognizes and binds to the DNA sequence 5'-GCG (T/G) GGGCG-3' (EGR-site) in the promoter region of target genes (By similarity) . Binds double- stranded target DNA, irrespective of the cytosine methylation status (PubMed:25258363, PubMed:25999311) . Regulates the transcription of numerous target genes, and thereby plays an important role in regulating the response to growth factors, DNA damage, and ischemia. Plays a role in the regulation of cell survival, proliferation and cell death. Activates expression of p53/TP53 and TGFB1, and thereby helps prevent tumor formation. Required for normal progress through mitosis and normal proliferation of hepatocytes after partial hepatectomy. Mediates responses to ischemia and hypoxia; regulates the expression of proteins such as IL1B and CXCL2 that are involved in inflammatory processes and development of tissue damage after ischemia. Regulates biosynthesis of luteinizing hormone (LHB) in the pituitary (By similarity) .

1. Botta, E., Nardo, T., Broughton, B. C., Marinoni, S., Lehmann, A. R., Stefanini, M. Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity. Am. J. Hum. Genet. 63: 1036-1048, 1998. 2. Broughton, B. C., Berneburg, M., Fawcett, H., Taylor, E. M., Arlett, C. F., Nardo, T., Stefanini, M., Menefee, E., Price, V. H., Queille, S., Sarasin, A., Bohnert, E., Krutmann, J., Davidson, R., Kraemer, K. H., Lehmann, A. R. Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene. Hum. Molec. Genet. 10: 2539-2547, 2001. 3. Broughton, B. C., Steingrimsdottir, H., Weber, C. A., Lehmann, A. R. Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy. Nature Genet. 7: 189-194, 1994.

At -20°C for one year from date of receipt. After reconstitution, at 4°C for one month. It can also be aliquotted and stored frozen at -20°C for six months. Avoid repeated freezing and thawing.