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 7.1.0) Predicted to enable iron chaperone activity; iron ion binding activity; and transferrin receptor binding activity. Involved in several processes, including ERK1 and ERK2 cascade; osteoclast differentiation; and positive regulation of bone resorption. 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 several diseases, including anemia; atransferrinemia; glucose metabolism disease (multiple); iron deficiency anemia; 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] |