The NIPBL Polyclonal Antibody (PACO10855) is a valuable tool for researchers studying NIPBL, a protein involved in the regulation of gene expression and DNA repair processes. This antibody, produced in rabbits, exhibits high specificity and sensitivity towards human samples, making it a reliable choice for Western blot applications. By binding to the NIPBL protein, researchers can effectively detect and measure its levels in various cell types, enabling detailed analysis in the fields of genetics and developmental biology.NIPBL, also known as Nipped-B-like protein, plays a crucial role in ensuring proper chromosome structure and function during key biological processes such as cell division and growth.
Dysregulation of NIPBL has been linked to developmental disorders and cancer, highlighting its significance in understanding human health and disease. Studying the function of NIPBL with this antibody may provide valuable insights into the molecular mechanisms underlying these conditions, potentially leading to the development of targeted therapies in the future.
This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in developmental regulation. It is also homologous to a family of chromosomal adherins with broad roles in sister chromatid cohesion, chromosome condensation, and DNA repair. The human protein has a bipartite nuclear targeting sequence and a putative HEAT repeat. Condensins, cohesins and other complexes with chromosome-related functions also contain HEAT repeats. Mutations in this gene result in Cornelia de Lange syndrome, a disorder characterized by dysmorphic facial features, growth delay, limb reduction defects, and mental retardation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
