Primary Identifier | MGI:1345279 | Organism | mouse, laboratory |
Chromosome | 15 | NCBI Gene Number | 18174 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables cobalt ion transmembrane transporter activity. Acts upstream of or within several processes, including erythrocyte development; multicellular organismal-level iron ion homeostasis; and transition metal ion transport. Located in brush border membrane; endosome; and extracellular vesicle. Is expressed in several structures, including intestine; liver; reproductive system; spleen; and yolk sac. Human ortholog(s) of this gene implicated in Parkinson's disease; amyotrophic lateral sclerosis; anemia; and hypochromic anemia. Orthologous to human SLC11A2 (solute carrier family 11 member 2). PHENOTYPE: Homozygotes for a spontaneous mutation exhibit microcytic, hypochromic anemia associated with impaired intestinal iron absorption and erythroblast iron uptake. Mutants have reduced viability and fertility. [provided by MGI curators] |