NIPBL Polyclonal Antibody

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 cognitive disability. Two transcript variants encoding different isoforms have been found for this gene.

CDLS; Colon tumor susceptibility 2; Delangin; DKFZp434L1319; FLJ11203; FLJ12597; FLJ13354; FLJ13648; FLJ44854; IDN 3; IDN 3 protein; IDN 3 protein isoform A; IDN 3 protein isoform B; IDN 3B; IDN3 B; IDN3 protein; IDN3 protein isoform A; IDN3 protein isoform B; IDN3B; Mis 4; Mis4; Nipbl; NIPBL; Nipped B homolog (Drosophila) ; Nipped B homolog; Nipped B like; Nipped B like protein; Nipped-B-like protein; Scc 2; SCC 2 homolog; Scc2; SCC2 homolog; Sister chromatid cohesion protein Mis4