ⓘ NIPBL

                                     

ⓘ NIPBL

Nipped-B-like protein, also known as Scc2 or delangin is a protein that in humans is encoded by the NIPBL gene. Nipbl is required for the association of cohesin with DNA and is the major subunit of the cohesin loading complex. Heterozygous mutations in NIPBL account for an estimated 60% of case of Cornelia de Lange Syndrome.

                                     
  • and the University of Newcastle upon Tyne England identified a gene NIPBL on chromosome 5 that causes CdLS when it is mutated. Since then, additional
  • methyltransferase reductase MZB1: Marginal zone B and B1 cell - specific protein NIPBL Nipped - B homolog Drosophila NSA2 encoding protein TGF beta - inducible
  • which is the gene for microRNA MiR125B2CTCF, STAG2, RAD21, SMC3, SMC1A, NIPBL SUZ12, PRC2, JAK1, JAK2, JAK3, MPL, KRAS, NRAS, and SH2B3. At least one
  • RUNX1, FLT3, ERG, DYRK1A, CHAF1B, HLCS, CTCF, STAG2, RAD21, SMC3, SMC1A, NIPBL SUZ12, PRC2, JAK1, JAK2, JAK3, MPL, KRAS, NRAS, SH2B3, and MIR125B2 which
  • the SCC1 and SCC3 proteins. The entire complex is loaded onto DNA by the NIPBL - MAU2 complex in a ring - like fashion. The first level of genome organization