Primary Identifier | MGI:95588 | Organism | mouse, laboratory |
Chromosome | 19 | NCBI Gene Number | 14319 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables identical protein binding activity and iron ion binding activity. Acts upstream of or within iron ion transport. Located in mitochondrion. Is active in cytosol and membrane. Is expressed in several structures, including alimentary system; cardiovascular system; genitourinary system; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in hemochromatosis type 5 and neurodegeneration with brain iron accumulation. Orthologous to human FTH1 (ferritin heavy chain 1). PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos. Mice heterozygous for a knock-out allele exhibit oxidative stress in neurons. [provided by MGI curators] |