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NIPBL gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

NIPBL gene

The NIPBL gene provides instructions for making the protein delangin, which regulates the cohesin complex to ensure proper chromosome activity during cell division.

Normal Function

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 their chromosomes. The copied DNA is arranged into two identical structures called sister chromatids, which are attached by a group of proteins known as the cohesin complex. Delangin controls the interaction between the cohesin complex and the DNA of the sister chromatids.

Researchers believe delangin also plays roles in:

  • Stabilizing genetic information.
  • Repairing damaged DNA.
  • Controlling the activity of genes essential for normal development.

Health Conditions Related to Genetic Changes

Cornelia de Lange syndrome

Variants (mutations) in the NIPBL gene are the most common known cause of Cornelia de Lange syndrome, a developmental disorder affecting many parts of the body, accounting for more than half of all cases.

  • Mechanism: Most variants lead to the production of an abnormally short (truncated), nonfunctional version of the delangin protein. This reduces the overall amount of functional delangin, which alters the activity of the cohesin complex.
  • Developmental Impact: Impaired regulation of genes critical for development is suspected to underlie the developmental problems characteristic of the syndrome.
  • Severity: Studies suggest that variants resulting in a nonfunctional version of delangin tend to cause more severe signs and symptoms than those resulting in a partially functional protein.

Other Names for This Gene

  • CDLS
  • IDN3
  • IDN3-B
  • NIPBL_HUMAN
  • Nipped-B homolog (Drosophila)
  • Nipped-B-like
  • Scc2

Frequently Asked Questions

Children often have short stature, microcephaly, low‑set ears, and limb abnormalities like short fingers or toes. Developmentally, they may experience intellectual disability, speech delays, and motor skill challenges. Early intervention with speech therapy, occupational therapy, and individualized education plans can help maximize developmental potential.
Multidisciplinary care is key: early physical and occupational therapy, speech and language services, and behavioral support. Family counseling and support groups—such as those offered by the Cornelia de Lange Syndrome Foundation—provide resources and emotional support. Additionally, educational accommodations and assistive technology can help children reach their full potential.
clinical diagnosis is based on characteristic features—such as distinctive facial appearance, growth delay, and limb anomalies—combined with genetic testing that identifies pathogenic variants in NIPBL. Whole‑exome sequencing or a targeted Cornelia de Lange panel is typically used, and results are interpreted by a clinical geneticist.
Yes. Cardiovascular anomalies (e.g., atrial septal defects), feeding difficulties, and gastrointestinal issues are common. Routine cardiac evaluations, growth monitoring, and nutritional assessments are recommended. Regular hearing and vision screenings are also advised, as sensory deficits can occur.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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