| Primary Identifier | IPR013908 | Type | Domain |
| Short Name | Nibrin_C |
| description | This is the C-terminal region of Nibrin (also known as DNA damage repair protein Nbs1) that has been identified to be necessary for the binding of Mre11 and Tel1 []. Nibrin (also known as Nbs1 or p95) plays an important role in the DNA damage response (DDR) and DNA repair. It is part of the nuclear MRN complex, which consists of Mre11, Rad50, and Nbs1, and is involved in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis [, , , , , ]. Mutations in the NBN gene coding for nibrin cause the Nijmegen Breakage Syndrome (NBS), a rare autosomal recessive disorder characterised by genomic instability and increased risk of haematopoietic malignancies [, ]. |
