Phospho-BLM (T99) Polyclonal Antibody, 100µg, (ATB-P0906)

Background: The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination. [provided by RefSeq, Jul 2008]Participates in DNA replication and repair. Exhibits a magnesium-dependent ATP-dependent DNA-helicase activity that unwinds single- and double-stranded DNA in a 3'-5' direction. Involved in 5'-end resection of DNA during double-strand break (DSB) repair: unwinds DNA and recruits DNA2 which mediates the cleavage of 5'-ssDNA. Negatively regulates sister chromatid exchange (SCE).Product datasheet: Overview Product Description Phospho-BLM (T99) Polyclonal Antibody, 100µg, (ATB-P0906) Image Species Reactivities Human Immunogen Synthesized peptide derived from human BLM around the phosphorylation site of T99. Properties Form Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide. Storage Instructions-20°C/1 year Clonality Polyclonal References: Regulation of gene expression by the BLM helicase correlates with the presence of G-quadruplex DNA motifs. Nguyen GH, et al. Proc Natl Acad Sci U S A, 2014 Jul 8. PMID 24958861 Free PMC Article A common nonsense mutation of the BLM gene and prostate cancer risk and survival. Antczak A, et al. Gene, 2013 Dec 15. PMID 24096176 On BLM helicase in recombination-mediated telomere maintenance. Rezazadeh S. Mol Biol Rep, 2013 Apr. PMID 23268311 Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations. Prokofyeva D, et al. Breast Cancer Res Treat, 2013 Jan. PMID 23225144 Non-Bloom syndrome-associated partial and total loss-of-function variants of BLM helicase. Mirzaei H, et al. Proc Natl Acad Sci U S A, 2012 Nov 20. PMID 23129629 Free PMC Article The Bloom's syndrome gene product is homologous to RecQ helicases. Ellis N.A., Groden J., Ye T.-Z., Straughen J., Lennon D.J., Ciocci S., Proytcheva M., German J.Cell 83:655-666(1995) [PubMed] [Europe PMC] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS BLM ARG-672; ILE-843 AND SER-1055. The Bloom's syndrome gene product is a 3'-5' DNA helicase. Karow J.K., Chakraverty R.K., Hickson I.D.J. Biol. Chem. 272:30611-30614(1997) [PubMed] [Europe PMC] Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION. Tissue: B-cell. NIEHS SNPs programSubmitted (JAN-2005) to the EMBL/GenBank/DDBJ databasesCited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ARG-137; MET-298; GLN-591; LEU-868; ILE-1205 LYS-1213 AND ILE-1321. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). The MGC Project TeamGenome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. BLM (the causative gene of Bloom syndrome) protein translocation into the nucleus by a nuclear localization signal. Kaneko H., Orii K.O., Matsui E., Shimozawa N., Fukao T., Matsumoto T., Shimamoto A., Furuichi Y., Hayakawa S., Kasahara K., Kondo N.Biochem. Biophys. Res. Commun. 240:348-353(1997) [PubMed] [Europe PMC] Cited for: NUCLEAR LOCALIZATION SIGNAL.