| 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 7.1.0) 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; DNA end binding 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 central nervous system; nasal epithelium; 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
