NIPBL
Nipped-B homolog (Drosophila)
CDLS, CDLS1, IDN3, IDN3-B, Scc2
Human NIPBL (25836), Mouse Nipbl (71175), Rat Nipbl (294787), cow NIPBL (539566), Horse NIPBL (100053547), domestic cat NIPBL (101098358), dog NIPBL (489226), sheep NIPBL (101108516), naked mole-rat Nipbl (101702533), domestic guinea pig Nipbl (100718118)
- Human(25836) 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, Jul 2008]
- Mouse(71175) Nipped-B homolog (Drosophila)
- Rat(294787) Nipped-B homolog (Drosophila)
- cow(539566) Nipped-B homolog (Drosophila)
- Horse(100053547) Nipped-B homolog (Drosophila)
- domestic cat(101098358) Nipped-B homolog (Drosophila)
- dog(489226) Nipped-B homolog (Drosophila)
- sheep(101108516) Nipped-B homolog (Drosophila)
- naked mole-rat(101702533) Nipped-B homolog (Drosophila)
- domestic guinea pig(100718118) Nipped-B homolog (Drosophila)
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Monoclonal Anti-NIPBL antibody produced in mouse, clone 3B9, purified immunoglobulin, buffered aqueous solution,
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ELISA
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immunofluorescence
western blot