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The official name of this gene is “Nipped-B homolog (Drosophila).”
NIPBL is the gene's official symbol. The NIPBL gene is also known by other names, listed below.
The NIPBL gene provides instructions for making a protein called delangin, which plays an important role in human development. Before birth, delangin is found in the developing arms and legs, the bones of the skull and face, the spinal column, the heart, and other parts of the body.
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.
More than 300 mutations in the NIPBL gene have been identified in people with Cornelia de Lange syndrome, a developmental disorder that affects many parts of the body. Mutations in this gene are the most common known cause of Cornelia de Lange syndrome, accounting for more than half of all cases.
Many different kinds of NIPBL gene mutations have been reported; most lead to the production of an abnormally short (truncated), nonfunctional version of the delangin protein from one copy of the gene in each cell. These mutations reduce the overall amount of delangin produced in cells, which likely alters the activity of the cohesin complex and impairs its ability to regulate genes that are critical for normal development. Although researchers do not fully understand how these changes cause Cornelia de Lange syndrome, they suspect that altered gene regulation probably underlies many of the developmental problems characteristic of the condition. Studies suggest that mutations leading to a nonfunctional version of delangin tend to cause more severe signs and symptoms than mutations that result in a partially functional version of the protein.
Cytogenetic Location: 5p13.2
Molecular Location on chromosome 5: base pairs 36,876,758 to 37,065,818
The NIPBL gene is located on the short (p) arm of chromosome 5 at position 13.2.
More precisely, the NIPBL gene is located from base pair 36,876,758 to base pair 37,065,818 on chromosome 5.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about NIPBL helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
cell ; cell division ; chromatid ; chromosome ; cohesion ; DNA ; gene ; gene regulation ; haploinsufficiency ; protein ; sister chromatid ; sister chromatid cohesion ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.