Nipped-B-like protein (NIPBL), also known as SCC2 or delangin is a protein that in humans is encoded by the NIPBL gene. [5] NIPBL is required for the association of cohesin with DNA …

The NIPBL gene provides instructions for making a protein called delangin, which plays an important role in human development. Learn about this gene and related health conditions.

Mar 30, 2025 · NIPBL (NIPBL Cohesin Loading Factor) is a Protein Coding gene. Diseases associated with NIPBL include Cornelia De Lange Syndrome 1 and Cornelia De Lange …

A cohesin-loading factor (NIPBL) is one of important regulatory factors in the maintenance of 3D genome organization and function, by interacting with a large number of factors, e.g. cohesion, …

Apr 14, 2023 · While the consequences of NIPBL mutation in cohesin distribution, genome folding, and, ultimately, gene expression likely account for many adverse defects in …

Jan 18, 2018 · We demonstrate that NIPBL haploinsufficiency leads to upregulation of gene sets identified in functions related to nucleosome, chromatin assembly, RNA modification and …

NIPBL is the human homolog of the Drosophila melanogaster Nipped-B gene. NIPBL, a cohesin loader, has been implicated in transcriptional control and genome organization. Localized at …

Mar 10, 2023 · Here we have examined the effect of reducing NIPBL levels on the behavior of the two cohesin variants carrying STAG1 or STAG2 by combining a flow cytometry assay to …

Gene ID: 25836, updated on 9-Feb-2025. This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion …

Jul 27, 2021 · Mutations in the cohesin loader, NIPBL/Scc2, were first described and are the most frequent in clinically diagnosed CdLS patients. The molecular mechanisms driving CdLS …