Entrez gene ID | | 25836 |
Official gene symbol | | NIPBL |
Full name | | Nipped-B homolog (Drosophila) |
Aliases | | ,CDLS,CDLS1,DKFZp434L1319,FLJ11203,FLJ12597,FLJ13354,FLJ13648,FLJ44854,IDN3,IDN3-B,Scc2, |
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] |
Location | | Chromosome: 5 Locus: 5p13.2 |
Gene position | | 36876861 - 37065921 Map Viewer |
Gene orientation | | plus |
Gene size | | 189061 bp |
Gene sequence |
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OMIM ID | | 608667 |
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