NIPBL Antibody

The NIPBL (Nipped B-like) gene was originally identified as a gene mutated in individuals with Cornelia de Lange syndrome (CdLS), a heterogenous developmental disorder associated with multiple anatomical malformations. The NIPBL protein product is also referred to as delangin. It has substantial homology to the D. melanogaster Nipped-B protein which is related to a family of chromosomal adherins that plays a role in sister chromatid adhesion, chromosome condensation, and DNA repair. A study of metaphase spreads from individuals positive and negative for NIPBL mutations revealed an association between NIPBL mutations and precocious sister chromatid separation. This result suggests a function for NIPBL that is similar to its homolog in drosophila.
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