購(gòu)物車(chē)
幫助
021-54845833/15800441009
中文名稱(chēng)：NIPBL抗原（重組蛋白）
英文名稱(chēng)： NIPBL Antigen (Recombinant Protein)
別 名： CDLS; IDN3; Scc2; CDLS1; IDN3-B
儲(chǔ) 存： 冷凍（-20℃）
相關(guān)類(lèi)別： 抗原
概 述：
|
Fusion protein corresponding to a region derived from 2523-2687 amino acids of human NIPBL |
|
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. |
