The NIPBL gene provides instructions for making a protein called delangin, which plays an important role in human development. Delangin helps control the activity of chromosomes during cell division. Before cells divide, they must copy all of their chromosomes. The copied DNA from each chromosome is arranged into two identical structures, called sister chromatids. The sister chromatids are attached to one another during the early stages of cell division by a group of proteins known as the cohesin complex. Delangin plays a critical role in the regulation of this complex. Specifically, it controls the interaction between the cohesion complex and the DNA that makes up the sister chromatids.
Researchers believe that delangin, as a regulator of the cohesin complex, also plays important roles in stabilizing cells’ genetic information, repairing damaged DNA, and controlling the activity of certain genes that are essential for normal development.
Other Names
CDLS; IDN3; IDN3-B; NIPBL_HUMAN; Nipped-B homolog (Drosophila); Nipped-B-like; Scc2
Related Genetics Topics
Identifiers
- NCBI Gene: 25836
- OMIM: 608667
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
