Primary Identifier | MGI:1351320 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 27223 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables damaged DNA binding activity; methylated histone binding activity; and telomeric DNA binding activity. Involved in double-strand break repair via nonhomologous end joining; negative regulation of double-strand break repair via homologous recombination; and positive regulation of isotype switching. Acts upstream of or within DNA repair. Located in chromosome and nuclear body. Part of DNA repair complex. Is expressed in several structures, including ileum; liver; lung; nervous system; and sensory organ. Orthologous to human TP53BP1 (tumor protein p53 binding protein 1). PHENOTYPE: Homozygous mutations in this gene result in growth retardation, immunodeficiency, thymic hypoplasia, and increased incidence of thymic lymphomas. [provided by MGI curators] |