Hereditary hemochromatosis protein (IPR031092)

Short name: HFE

Family relationships


Protein HFE is a member of the major histocompatibility complex class I-like family and a negative regulator of iron absorption. Mutations in the gene encoding HFE cause hereditary hemochromatosis (HH), a hereditary disease characterised by excessive intestinal absorption of dietary iron resulting in a pathological increase in total body iron stores. HFE interacts with transferrin receptor (TFR), a key protein involved in iron transport. An alteration in this regulatory mechanism could play a role in the pathogenesis of hereditary hemochromatosis [PMID: 9465039]. HFE mutations also affect MHC I surface expression and stability [PMID: 17339458, PMID: 15840699]. Furthermore, HFE appears to inhibit antigen-specific CD8(+) T-lymphocyte activation, probably due to altered intracellular processing of MHC I antigens [PMID: 24643698]. HFE gene variants correlate with body iron levels and have shown association with cancer risk, including childhood acute lymphoblastic leukemia [PMID: 25085015, PMID: 25700349].

GO terms

Biological Process

GO:0006879 cellular iron ion homeostasis
GO:0097459 iron ion import into cell
GO:0002626 negative regulation of T cell antigen processing and presentation

Molecular Function

GO:0005102 receptor binding

Cellular Component

No terms assigned in this category.

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.