Synthesized peptide derived from human protein . at AA range: 560-640
Storage:
Rabbit
Storage:
-20°C/1 year
Clonality:
Polyclonal
Isotype:
IgG
Concentration:
1 mg/ml
Observed Band:
308kD
GeneID（Human）:
25836
Human Swiss-Prot No:
Q6KC79
Cellular localization:
Nucleus . Chromosome .
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 mental retardation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008],
