NIPBL

NIPBL is a gene that encodes a protein known as delangin. This protein is crucial for the proper development and function of multiple body systems. Mutations in the NIPBL gene are associated with Cornelia de Lange syndrome, a rare genetic disorder characterized by slow growth, intellectual disability, and distinctive facial features.

Function

The NIPBL gene provides instructions for making a protein that is involved in the regulation of gene expression, which is the process by which a gene's information is converted into the structures and functions of a cell. The NIPBL protein is part of a group of proteins known as the cohesin complex, which plays a critical role in chromosome structure and function.

Clinical significance

Mutations in the NIPBL gene are the most common cause of Cornelia de Lange syndrome. This condition is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, and distinctive facial features such as synophrys (a unibrow), long eyelashes, low-set ears, small widely spaced teeth, and a small upturned nose. Affected individuals may also have hand and foot abnormalities, hearing loss, and heart defects.

Genetic changes

Most mutations in the NIPBL gene lead to the production of a protein that is abnormally short and nonfunctional. Researchers believe that a shortage of the NIPBL protein disrupts the normal regulation of gene expression during early development, leading to the characteristic features of Cornelia de Lange syndrome.

See also

• Cohesin complex
• Cornelia de Lange syndrome
• Gene expression