Primary Identifier | MGI:1333855 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 11927 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including ATPase binding activity; copper-dependent protein binding activity; and cuprous ion binding activity. Acts upstream of or within copper ion transport and intracellular copper ion homeostasis. Predicted to be active in cytosol. Is expressed in cortical plate. Orthologous to human ATOX1 (antioxidant 1 copper chaperone). PHENOTYPE: Homozygotes for a targeted null mutation have impaired intracellular copper trafficking and exhibit high postnatal mortality, retarded growth, hypoactivity, loose skin, hypopigmentation, and seizures. [provided by MGI curators] |