Primary Identifier | MGI:3045266 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 330554 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables 5'-3' exonuclease activity. Predicted to be involved in double-strand break repair via homologous recombination; interstrand cross-link repair; and nucleotide-excision repair. Predicted to be located in cytosol; intercellular bridge; and nucleoplasm. Predicted to be active in nucleus. Is expressed in ductus deferens; epididymis; and testis. Used to study karyomegalic interstitial nephritis. Human ortholog(s) of this gene implicated in karyomegalic interstitial nephritis. Orthologous to human FAN1 (FANCD2 and FANCI associated nuclease 1). PHENOTYPE: Mice homozygous for mutations in this gene display renal tubular karyomegaly with polyploidy and defects in interstrand cross-link DNA repair. Some homozygous mice also display hepatocyte karyomegaly and liver dysfunction. [provided by MGI curators] |