Description
Product Characteristics: IDN3 (also known as Colon tumor susceptibility 2, DKFZp434L1319, FLJ13648, Mis 4, Scc-2, Delangin and Sister chromatid cohesion protein) is the mammalian homologue of Scc2 in S. cerevisiae and Mis4 in S. pombe. In yeast, this factor was originally identified genetically as being involved in sister chromatid cohesion, subsequent work has determined that it is not involved in cohesion directly but is required for the loading of cohesins onto chromatin during S phase. It shares 37% sequence identity with Nipped-B gene product of Drosophila, which facilitates enhancer-promoter communication of remote enhancers. The Drosophila protein is also homologous to a family of chromosomal adherins with broad roles in sister chromatid cohesion, chromosome condensation, and DNA repair. IDN3 is a nuclear protein that is widely expressed and found at the highest levels in heart, skeletal muscle, fetal and adult liver, and fetal and adult kidney. The protein is also found, albeit at lower levels of expression in thymus, placenta, peripheral leukocyte and small intestine. Multiple isoforms of the protein have been reported.
Synonyms: CDLS antibody, Colon tumor susceptibility 2 antibody, Delangin antibody, DKFZp434L1319 antibody, FLJ11203 antibody
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]