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 and is the major subunit of the cohesin loading complex. [6] Heterozygous mutations in NIPBL account for an estimated 60% of case of Cornelia de Lange Syndrome. [7]

2024年12月25日 · NIPBL (NIPBL Cohesin Loading Factor) is a Protein Coding gene. Diseases associated with NIPBL include Cornelia De Lange Syndrome 1 and Cornelia De Lange Syndrome. Among its related pathways are Cell Cycle, Mitotic and Mitotic Telophase/Cytokinesis.

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.

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, CCCTC-binding factor (CTCF) or cohesin complex component.

2023年3月10日 · 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 measure chromatin-bound...

2018年1月18日 · We demonstrate that NIPBL haploinsufficiency leads to upregulation of gene sets identified in functions related to nucleosome, chromatin assembly, RNA modification and downregulation of Wnt...

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 5p13.2, the 47 exons NIPBL gene encodes the NIPBL, also known as SCC2 or delangin. The exact function of NIPBL is unknown but it is believed to be essential for ...

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 proteins. The Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in developmental regulation.

2023年4月14日 · While the consequences of NIPBL mutation in cohesin distribution, genome folding, and, ultimately, gene expression likely account for many adverse defects in development and physiology, some studies point to additional pathological mechanisms that include DNA damage and senescence.

The C-terminal region containing HEAT repeats and Pro-Xaa-Val-Xaa-Leu (PxVxL) motif are involved in the recruitment of NIPBL to sites of DNA damage. 1 publication