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NIPBL

Friday 3 September 2004

NIPBL is the human homolog of the Drosophila melanogaster Nipped-B gene.

The function of NIPBL in mammals is unknown. The Drosophila Nipped-B protein facilitates long-range enhancer-promoter interactions and plays a role in Notch signaling and other developmental pathways, as well as being involved in mitotic sister-chromatid cohesion.

Pathology

- missense and protein-truncating mutations of NIPBL in 47% of patients with Cornelia de Lange syndrome (15318302)

- The Cornelia de Lange syndrome is a multisystem developmental disorder characterized by facial dysmorphia, upper-extremity malformations, hirsutism, cardiac defects, growth and cognitive retardation, and gastrointestinal abnormalities.