1-832-868-1888
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Catalog Number: |
31986 |
| other_names: | CDLS; IDN3; Scc2; CDLS1; IDN3-B |
Amount: |
100μg |
| calculated_mw: | |
| host_species: | Rabbit |
Price: |
$319 |
Swiss-Prot No: |
Swiss-Prot#: Q9UJD0 |
Form of Antibody: |
pH7.4 PBS, 0.05% NaN3, 40% Glycerol |
Storage/Stability: |
|
Immunogen: |
Fusion protein of human NIPBL |
Purification: |
Antigen affinity purification |
Specificity/Sensitivity: |
|
Applications: |
IHC |
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. |
References: |
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appl_detail: |
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