Product Datasheet
NIPBL antibody
Catalog Number: 31986
Technical:tech@swbio.com
Information:info@swbio.com
Description
- Swiss-Prot No.:
- Swiss-Prot#: Q9UJD0
NCBI Protein#: BC033847
- Form of Antibody:
- pH7.4 PBS, 0.05% NaN3, 40% Glycerol
- Storage:
- Store at -20˚C/1 year
- Immunogen:
- Fusion protein of human NIPBL
- appl_detail:
IHC dilution:1:50-1:200
- other_names:
- CDLS; IDN3; Scc2; CDLS1; IDN3-B
- Purification:
- Antigen affinity purification
- Background:
- 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.
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