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.

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.

Further reading

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External links

• GeneReviews/NCBI/UW/NIH entry on Cornelia de Lange Syndrome
• NIPBL protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.