Primary Identifier | MGI:1922820 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 75570 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable DNA end binding activity and DNA polymerase binding activity. Involved in double-strand break repair via nonhomologous end joining. Predicted to be located in fibrillar center and nucleoplasm. Predicted to be part of DNA ligase IV complex and DNA-dependent protein kinase-DNA ligase 4 complex. Predicted to be active in site of double-strand break. Human ortholog(s) of this gene implicated in severe combined immunodeficiency. Orthologous to human NHEJ1 (non-homologous end joining factor 1). PHENOTYPE: Homozygous null ES cells are sensitive to ionizing radiation and have defects in DNA repair. Lymphocyte numbers are modestly decreased in null homozygous mice. [provided by MGI curators] |