Hereditary hemochromatosis protein (IPR031092)
Short name: HFE
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 [PMID: 8696333]. 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, while structurally homologous to MHC I, is unable to bind peptides [PMID: 9546397]. However, several lines of evidence indicate that the role of HFE may extend toward a role in immunity. HFE may influence antigen presentation [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].
GO:1990459 transferrin receptor binding
GO:1990712 HFE-transferrin receptor complex
- PTHR16675:SF172 (PTHR16675:SF172)