| Primary Identifier | MGI:109191 | Organism | mouse, laboratory |
| Chromosome | 13 | NCBI Gene Number | 15216 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables transferrin receptor binding activity. Involved in negative regulation of proteasomal ubiquitin-dependent protein catabolic process and positive regulation of gene expression. Acts upstream of or within hormone biosynthetic process and multicellular organismal-level iron ion homeostasis. Part of HFE-transferrin receptor complex. Is expressed in brain; choroid invagination; diencephalon roof plate; medulla oblongata part of 4th ventricle choroid plexus; and metencephalon part of 4th ventricle choroid plexus. Used to study hemochromatosis type 1. Human ortholog(s) of this gene implicated in several diseases, including arthritis (multiple); bone marrow cancer (multiple); diabetes mellitus (multiple); hemochromatosis (multiple); and liver disease (multiple). Orthologous to human HFE (homeostatic iron regulator). PHENOTYPE: Mutation of this gene affects iron metabolism. Homozygotes for targeted null mutations exhibit increased intestinal iron absorption and an elevated hepatic iron load but reduced duodenal iron stores. Heterozygotes also accumulate more iron than normal. [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
