NIPBL Products

Description

NIPBL encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in developmental regulation. It is also homologous to a family of chromosomal adherins with broad roles in sister chromatid cohesion, chromosome condensation, and DNA repair. The human protein has a bipartite nuclear targeting sequence and a putative HEAT repeat. Condensins, cohesins and other complexes with chromosome-related functions also contain HEAT repeats. Mutations in this gene result in Cornelia de Lange syndrome, a disorder characterized by dysmorphic facial features, growth delay, limb reduction defects, and mental retardation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq]

Bioinformatics

Uniprot	AAH33847 Human AAH33847.1 Human NP_597677.2 Human Q6KC79 Human
Product By Gene ID	25836
Alternate Names	CDLS1 Delangin delangin DKFZp434L1319 FLJ11203 FLJ12597 FLJ13354 FLJ13648 FLJ44854 IDN3-B IDN3CDLS Nipped-B homolog (Drosophila) nipped-B-like protein SCC2 homolog Scc2 sister chromatid cohesion 2 homolog

Research Areas for NIPBL

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Cell Cycle and Replication