Primary Identifier | MGI:98821 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 22041 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable iron chaperone activity; iron ion binding activity; and transferrin receptor binding activity. Involved in several processes, including ERK1 and ERK2 cascade; positive regulation of bone resorption; and positive regulation of metabolic process. Acts upstream of or within iron ion transport and response to bacterium. Located in clathrin-coated pit and cytoplasmic vesicle. Is expressed in several structures, including blood; brain; liver; placenta; and white fat. Used to study atransferrinemia. Human ortholog(s) of this gene implicated in anemia (multiple); atransferrinemia; gastrointestinal system disease; glucose metabolism disease (multiple); and restless legs syndrome. Orthologous to human TF (transferrin). PHENOTYPE: Homozygotes for a spontaneous mutation exhibit refractory iron-deficient, hypochromic, microcytic anemia with iron-loading in the liver, pancreas, heart and brain. Mutants usually die by two weeks of age. Heterozygotes show minor increases in iron stores. [provided by MGI curators] |