Primary Identifier | MGI:1333783 | Organism | mouse, laboratory |
Chromosome | 19 | NCBI Gene Number | 12460 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable copper ion binding activity; enzyme binding activity; and superoxide dismutase copper chaperone activity. Acts upstream of or within positive regulation of oxidoreductase activity. Predicted to be located in cytoplasm and nucleus. Is expressed in heart. Human ortholog(s) of this gene implicated in amyotrophic lateral sclerosis. Orthologous to human CCS (copper chaperone for superoxide dismutase). PHENOTYPE: Homozygous mutation of this gene results in increased sensitivity to paraquat and reduced female fertility. Ovaries of mutant female animals have reduced numbers of mature ovarian follicles and corpora lutea. [provided by MGI curators] |