Nipped-B-like protein (NIPBL)

Nipped-B-like protein (NIPBL) is a chromosomal protein required for loading the cohesin complex onto chromatin, ensuring sister chromatid cohesion and proper chromosome segregation during cell division[1][2][3][4][7]. NIPBL forms a complex with MAU2/SCC4, collectively termed the cohesin loading complex, which is essential for cohesin’s association with DNA[2][3][4][7]. Besides its key role in cell division, NIPBL participates in DNA repair, regulation of gene expression, RNA biogenesis, and possibly in developmental signaling pathways (including Wnt signaling)[8][4]. Mutations in the NIPBL gene are the main cause of Cornelia de Lange syndrome, a multisystem developmental disorder characterized by distinctive facial features, growth delay, limb abnormalities, and cognitive disabilities[1][3][4]. NIPBL’s centrality in genome stability, regulation, and development makes it a target of research for understanding cohesinopathies and exploring implications in cancer and regenerative medicine, though no drugs currently target NIPBL directly for therapy[3][4].

Other names

NIPBLdelanginSCC2IDN3CDLSCDLS1IDN3-BNIPBL_HUMANNipped-B homolog (Drosophila)Nipped-B-likeScc2sister chromatid cohesion 2 homolog

Not applicable; no approved drugs known to target NIPBL directly.