Associated disorders

The NIPBL gene is associated with autosomal dominant Cornelia de Lange syndrome (CdLS) (MedGen UID: 429758).

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Cohesin is a protein complex that is involved in DNA replication, DNA repair, and the cohesion of the sister chromatids prior to cell division. The NIPBL gene encodes a protein that is involved in loading of the cohesin protein complex onto DNA. It also has an independent role in the long-range activation of transcription.

Assay and technical information




Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
NIPBL NM_133433.3