| Primary Identifier | MGI:1933533 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 84506 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables copper ion binding activity. Involved in intracellular iron ion homeostasis and negative regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including defense response to other organism; multicellular organismal-level iron ion homeostasis; and positive regulation of macromolecule metabolic process. Located in extracellular space and nucleus. Is expressed in embryo; liver; and yolk sac. Used to study hemochromatosis type 2B. Human ortholog(s) of this gene implicated in anemia; hemochromatosis; hemochromatosis type 2B; and hepatocellular carcinoma. Orthologous to human HAMP (hepcidin antimicrobial peptide). PHENOTYPE: Null mutations in this gene result in abnormal iron homeostasis, with massive iron accumulation observed in the liver, pancreas, and heart of mice. Serum iron content is also elevated, while splenic iron content is significantly decreased compared to wild type. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
