Tags: Disease.
Nijmegen breakage syndrome (NBS) also known as Berlin breakage syndrome and Seemanova syndrome is a rare autosomal recessive congenital disorder causing chromosomal instability probably as a result of a defect in the Double Holliday junction DNA repair mechanism. NBS1 codes for a protein that has two major functions: (1) to stop the cell cycle in the S phase when there are errors in the cell DNA (2) to interact with FANCD2 that can activate the BRCA1/BRCA2 pathway of DNA repair.
