Description
Product Characteristics:
Aliases: CDLS antibody, Colon tumor susceptibility 2 antibody, Delangin antibody, DKFZp434L1319 antibody, FLJ11203 antibody, FLJ12597 antibody, FLJ13354 antibody, FLJ13648 antibody, FLJ44854 antibody, IDN 3 antibody, IDN 3 protein antibody, IDN 3 protein isoform A antibody, IDN 3 protein isoform B antibody, IDN 3B antibody, IDN3 B antibody, IDN3 protein antibody, IDN3 protein isoform A antibody, IDN3 protein isoform B antibody, IDN3B antibody, Mis 4 antibody, Mis4 antibody, Nipbl antibody, NIPBL_HUMAN antibody, Nipped B homolog (Drosophila) antibody, Nipped B homolog antibody, Nipped B like antibody, Nipped B like protein antibody, Nipped-B-like protein antibody, Scc 2 antibody, SCC 2 homolog antibody, Scc2 antibody, SCC2 homolog antibody, Sister chromatid cohesion protein Mis4 antibody
Target Information: 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]