Automated description from the Alliance of Genome Resources (Release 7.4.0)
Enables chromatin-protein adaptor activity and damaged DNA binding activity. Involved in DNA metabolic process and blastocyst growth. Acts upstream of or within intracellular signal transduction; neuroblast proliferation; and neuromuscular process controlling balance. Located in PML body and replication fork. Part of Mre11 complex. Colocalizes with chromosome, telomeric region. Is expressed in several structures, including alimentary system; brain; genitourinary system; heart; and respiratory system. Used to study Nijmegen breakage syndrome and T-cell acute lymphoblastic leukemia. Human ortholog(s) of this gene implicated in several diseases, including Nijmegen breakage syndrome; acute lymphoblastic leukemia; aplastic anemia; rectum cancer; and reproductive organ cancer (multiple). Orthologous to human NBN (nibrin).
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