名称：NIPBL

别名：CDLS; IDN3; Scc2; CDLS1; IDN3-B

Targets：Disease

描述

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.

Specification

Swissprot：Q6KC79

Gene Accession：BC033847

Host/Isotype：Rabbit IgG

Antibody Type：Primary antibody

Storage：Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze/thaw cycles.

Species Reactivity：Human, Mouse

免疫原：Fusion protein of human NIPBL

Formulation：Purified antibody in PBS with 0.05% sodium azide and 50% glycerol.

Application

Application：IHC

IHC：1/50-1/200

ELISA：1/5000-1/10000

宿主：Rabbit