Description
Product Characteristics:
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, Jul 2008].
Subcellular location: Nucleus
Synonyms: CDLS, Colon tumor susceptibility 2, Delangin, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, FLJ44854, IDN 3, IDN 3 protein, IDN 3 protein isoform A, IDN 3 protein isoform B, IDN 3B, IDN3 B, IDN3 protein, IDN3 protein isoform A, IDN3 protein isoform B, IDN3B, Mis 4, Mis4, Nipbl, NIPBL_HUMAN, Nipped B homolog Drosophila, Nipped B homolog, Nipped B like, Nipped B like protein, Nipped-B-like protein, Scc 2, SCC 2 homolog, Scc2, SCC2 homolog, Sister chromatid cohesion protein Mis4.
Target Information: 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, Jul 2008]