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中文名称：NIPBL抗原（重组蛋白）
英文名称： NIPBL Antigen (Recombinant Protein)
别 名： CDLS; IDN3; Scc2; CDLS1; IDN3-B
储 存： 冷冻（-20℃）
相关类别： 抗原
概 述：
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Fusion protein corresponding to a region derived from 2523-2687 amino acids of human NIPBL |
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Full name: |
NIPBL, cohesin loading factor |
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Synonyms: |
CDLS; IDN3; Scc2; CDLS1; IDN3-B |
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Swissprot: |
Q6KC79 |
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Gene Accession: |
BC033847 |
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Purity: |
>85%, as determined by Coomassie blue stained SDS-PAGE |
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Expression system: |
Escherichia coli |
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Tags: |
His tag C-Terminus, GST tag N-Terminus |
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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. |
