NIPBL polyclonal antibody Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Catalog Number: PAB10226 Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in Regulatory Status: For research use only (RUO) developmental regulation. It is also homologous to a family of chromosomal adherins with broad roles in sister Product Description: Goat polyclonal antibody raised chromatid cohesion, chromosome condensation, and against synthetic peptide of NIPBL. DNA repair. The human protein has a bipartite nuclear targeting sequence and a putative HEAT repeat. Immunogen: A synthetic peptide corresponding to Condensins, cohesins and other complexes with amino acids 344-356 of human NIPBL. chromosome-related functions also contain HEAT repeats. Mutations in this gene result in Cornelia de Host: Goat Lange syndrome, a disorder characterized by Reactivity: Bovine,Dog,Human,Mouse,Orangutan,Rat dysmorphic facial features, growth delay, limb reduction defects, and mental retardation. Two transcript variants Applications: ELISA, WB-Ti encoding different isoforms have been found for this (See our web site product page for detailed applications gene. [provided by RefSeq] information) References: Protocols: See our web site at 1. NIPBL gene responsible for Cornelia de Lange http://www.abnova.com/support/protocols.asp or product syndrome, a severe developmental disorder. Ben-Asher page for detailed protocols E, Lancet D. Isr Med Assoc J. 2004 Sep;6(9):571-2. 2. NIPBL mutational analysis in 120 individuals with Specificity: This affinity purified antibody is directed Cornelia de Lange syndrome and evaluation of against human IDN3 protein. genotype-phenotype correlations. Gillis LA, McCallum J, Kaur M, DeScipio C, Yaeger D, Mariani A, Kline AD, Li Form: Liquid HH, Devoto M, Jackson LG, Krantz ID. Am J Hum Genet. 2004 Oct;75(4):610-23. Epub 2004 Aug 18. Recommend Usage: ELISA (1:2000-1:10000) 3. NIPBL, encoding a homolog of fungal Scc2-type sister Western Blot (1:500-1:3000) chromatid cohesion proteins and fly Nipped-B, is The optimal working dilution should be determined by mutated in Cornelia de Lange syndrome. Tonkin ET, the end user. Wang TJ, Lisgo S, Bamshad MJ, Strachan T. Nat Genet. 2004 Jun;36(6):636-41. Epub 2004 May 16. Storage Buffer: In 20 mM KH2PO4, 150 mM NaCl, pH 7.2 (0.01% sodium azide) Storage Instruction: Store at 4°C. For long term storage store at -20°C. Aliquot to avoid repeated freezing and thawing. Entrez GeneID: 25836 Gene Symbol: NIPBL Gene Alias: CDLS, CDLS1, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, FLJ44854, IDN3, IDN3-B Gene Summary: This gene encodes the homolog of the Page 1/1 Powered by TCPDF (www.tcpdf.org).