| Primary Identifier | MGI:104517 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 22596 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Predicted to enable several functions, including ATP hydrolysis activity; nucleic acid binding activity; and ubiquitin protein ligase binding activity. Predicted to contribute to 5'-deoxyribose-5-phosphate lyase activity and double-stranded telomeric DNA binding activity. Acts upstream of or within several processes, including cellular response to leukemia inhibitory factor; hemopoiesis; and positive regulation of neurogenesis. Located in cytoplasm and nucleus. Is expressed in cerebral cortex ventricular layer and thymus primordium. Human ortholog(s) of this gene implicated in chronic obstructive pulmonary disease; multiple myeloma; and rectum cancer. Orthologous to human XRCC5 (X-ray repair cross complementing 5). PHENOTYPE: Mutants are defective in DNA double-strand break repair and show impaired growth and severe combined immunodeficiency due to defective assembly of TCRs and immunoglobulins. Mutants die early with osteopenia, atrophic skin and hepatic abnormalities. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
