Name: NIPBL抗原（重組蛋白）
Brand: 通蔚生物

中文名稱：NIPBL抗原（重組蛋白）

英文名稱： NIPBL Antigen (Recombinant Protein)

別名： CDLS; IDN3; Scc2; CDLS1; IDN3-B

儲(chǔ) 存： 冷凍（-20℃）

相關(guān)類別： 抗原

概述：

Fusion protein corresponding to a region derived from 2523-2687 amino acids of human NIPBL

技術(shù)規(guī)格：

Full name:	NIPBL, cohesin loading factor
Synonyms:	CDLS; IDN3; Scc2; CDLS1; IDN3-B
Swissprot:	Q6KC79
Gene Accession:	BC033847
Purity:	>85%, as determined by Coomassie blue stained SDS-PAGE
Expression system:	Escherichia coli
Tags:	His tag C-Terminus, GST tag N-Terminus
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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