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).