Products

Western Blot (Recombinant protein)

ELISA

Immunofluorescence

Entrez GeneID

GeneBank Accession#

Protein Accession#

Gene Name

NIPBL

Gene Alias

CDLS, CDLS1, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, FLJ44854, IDN3, IDN3-B

Gene Description

Nipped-B homolog (Drosophila)

Omim ID

Gene Ontology

Gene Summary

This gene 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

Other Designations

OTTHUMP00000116005|SCC2 homolog|delangin|nipped-B-like