The epitope recognized by PLA0179 maps to a region between residue 704 and 754 of human Nibrin using the numbering given in entry NP_002476.2 (GeneID 4683).
Mutations in NBS1 (Nijmegen Breakage Syndrome 1), also known as nibrin, are associated with the autosomal recessive syndrome, Nijmegen breakage syndrome, characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. At the cellular level, NBS1 is part of the MRE11/RAD50 double-strand break repair complex that is critical to the DNA damage response, DNA recombination, telomere integrity, and cell cycle checkpoint control.
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Ribosomal DNA (rDNA) is the most transcribed genomic region and contains hundreds of tandem repeats. Maintaining these rDNA repeats as well as the level of rDNA transcription is essential for cellular homeostasis. DNA damages generated in rDNA need to be
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