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NIPBL
NIPBL cohesin loading factorDKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, IDN3, Scc2
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]
Top validated antibodies |
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| Proteintech Group |  18792-1-AP |
1 references | Polyclonal |
WB
EL
ICC
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| Novus Biologicals | NBP1-52168 |
1 references | Polyclonal |
EL
ICC
IHC
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| OriGene | AM20796PU-L |
Monoclonal |
WB
ICC
IP
IHC
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| Atlas Antibodies | HPA040834 |
1 references | Polyclonal |
ICC
IHC
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| St John's Laboratory | STJ72250 |
Polyclonal |
WB
EL
IHC
OA
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