Rabbit anti-Human NIPBL Polyclonal Antibody | anti-NIPBL antibody
NIPBL Antibody, FITC conjugated
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
NIPBL: a chromatin protein involved in sister chromatid cohesion. Interacts directly with CBX5 via the PxVxL motif, which is required for interaction with chromoshadow domains. Defects in NIPBL are the cause of Cornelia de Lange syndrome (CDL). CDL is a dominantly inherited multisystem developmental disorder. Three alternatively spliced isoforms have been reported.
Protein type: DNA-binding
Chromosomal Location of Human Ortholog: 5p13.2
Cellular Component: nucleoplasm; nucleus
Molecular Function: histone deacetylase binding; protein binding; protein C-terminus binding; protein N-terminus binding
Biological Process: brain development; cognition; developmental growth; ear morphogenesis; embryonic digestive tract morphogenesis; embryonic forelimb morphogenesis; external genitalia morphogenesis; eye morphogenesis; forelimb morphogenesis; heart morphogenesis; maintenance of mitotic sister chromatid cohesion; mitotic sister chromatid cohesion; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; positive regulation of histone deacetylation; regulation of developmental growth; regulation of embryonic development; regulation of hair cycle; response to DNA damage stimulus; sensory perception of sound
Disease: Cornelia De Lange Syndrome 1
Research Articles on NIPBL
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Product Notes
The NIPBL nipbl (Catalog #AAA7050508) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The NIPBL Antibody, FITC conjugated reacts with Human and may cross-react with other species as described in the data sheet. AAA Biotech's NIPBL can be used in a range of immunoassay formats including, but not limited to, ELISA (EIA). Researchers should empirically determine the suitability of the NIPBL nipbl for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "NIPBL, Polyclonal Antibody" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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