| ncRNA Symbol: | NIPBL | | Full Name: | NIPBL, cohesin loading factor | | Category: | mRNA | | Synonyms: | CDLS|CDLS1|IDN3|IDN3-B|Scc2 | | Chromosome: | chr5 | | Strand: | + | | Coordinate: | | Start Site(bp): | 36876759 | End Site(bp): | 37066413 | | | 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 cognitive disability. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] | | External Links: | |
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