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IDN3 / NIPBL is 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.
Gene Name: | Nipped-B homolog (Drosophila) |
Synonyms: | NIPBL, CDLS1, CDLS, Delangin, IDN3, Nipped-B homolog (Drosophila), IDN3-B, Scc2, SCC2 homolog, Nipped-B-like protein |
Target Sequences: | NM_015384 NP_056199.2 Q6KC79 |
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