Species Human Entrez 25836 | Human Mouse Ensembl ENSG00000164190 | |
Aliases NIPBL, CDLS, CDLS1, IDN3, IDN3-B, Scc2, cohesin loading factor External IDs OMIM: 608667 MGI: 1913976 HomoloGene: 15850 GeneCards: NIPBL | ||
Nipped-B-like protein (NIPBL), also known as delangin or SCC2 homolog is a protein that in humans is encoded by the NIPBL gene.
Contents
Function
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 domain. Condensins, cohesins and other complexes with chromosome-related functions also contain HEAT repeats.
Clinical significance
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.