NIPBL

Nipped-B-like protein (NIPBL), also known as delangin or SCC2 homolog is a is_associated_with::protein that in humans is encoded by the NIPBL is_associated_with::gene.

Function
This gene encodes the homolog of the is_associated_with::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 is_associated_with::chromatid cohesion, chromosome condensation, and is_associated_with::DNA repair. The human protein has a bipartite nuclear targeting sequence and a putative is_associated_with::HEAT repeat domain. is_associated_with::Condensins, is_associated_with::cohesins and other complexes with chromosome-related functions also contain HEAT repeats.

Clinical significance
Mutations in this gene result in is_associated_with::Cornelia de Lange syndrome, a disorder characterized by dysmorphic facial features, growth delay, limb reduction defects, and mental retardation.