Primary Identifier | MGI:95480 | Organism | mouse, laboratory |
Chromosome | 13 | NCBI Gene Number | 14088 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Acts upstream of or within several processes, including brain morphogenesis; neuronal stem cell population maintenance; and removal of superoxide radicals. Predicted to be located in chromatin and cytosol. Predicted to be part of Fanconi anaemia nuclear complex. Is expressed in several structures, including central nervous system; embryo mesenchyme; gonad; retina nuclear layer; and skeleton. Used to study Fanconi anemia complementation group A and Fanconi anemia complementation group C. Human ortholog(s) of this gene implicated in several diseases, including Fanconi anemia (multiple); acute myeloid leukemia; aspirin-induced respiratory disease; pancreatic cancer; and pancytopenia. Orthologous to human FANCC (FA complementation group C). PHENOTYPE: Homozygous null mutants are grossly normal, but chromosome aberrations and sensitivity to DNA crosslinkers are seen. Both sexes have fewer germ cell numbers and impaired fertility. Marrow progenitors show decrease in colony forming ability. [provided by MGI curators] |