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Nibrin definition: Encoded by human NBS1 Gene, ubiquitous expression of 754-amino acid 85 kD Nibrin occurs principally in testis, thymus, and spleen (sites of physiologic DNA double-strand breakage) and liver, lung, striated/smooth muscle, kidney, and gut (high proliferative activity). Nibrin contains a forkhead-associated domain and a C-terminal breast cancer domain. As part of the p95/NBS1/p200/p400/MRE11/RAD50 and the BASC complexes, NBS1 participates in DNA repair and meiotic recombination. Serine phosphorylation by ATM is linked to S-phase checkpoint activation. Nibrin/gamma-H2AX associate with V(D)J recombination sites in response to RAG1-mediated cleavage. Ig Class switch DNA recombination recruits NBS1/gamma-H2AX in G1. NBS1 mutations are associated with Nijmegen breakage syndrome, chromosomal instability, cancer, and cell cycle checkpoint defects. (from Swiss-Prot, OMIM, and NCI)
NBN Gene definition: This gene plays a role in DNA repair and cell cycle checkpoints.
NBN wt Allele definition: Human NBN wild-type allele is located within 8q21 and is approximately 51 kb in length. This allele, which encodes nibrin protein, is involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. Functional mutations in the NBN gene produce allelic variants that are involved in Nijmegen breakage syndrome.