| Modification Notes |
XRCC6BP1, also known as mitochondrial inner membrane protease ATP23 homolog or KUB3, is a 246 amino acid protein. As a member of the peptidase M76 family, XRCC6BP1 interacts with XRCC6. The gene encoding XRCC6BP1 maps to human chromosome 12 and encodes Ku70 binding protein. Ku70 is a part of the DNA-dependent protein kinase complex and is involved in double-strand break repair. It is suggested that XRCC6BP1 gene amplification affects double-strand break repair in glioblastoma cell lines. Chromosome 12 is associated with a variety of diseases and afflictions, including hypochondrogenesis, achondrogenesis, Kniest dysplasia, Noonan syndrome and trisomy 12p, which causes facial developmental defects and seizure disorders. |