Hemochromatosis Protein

**Definition:** A membrane protein and MHC class I antigen. It contains an IMMUNOGLOBULIN C1-SET DOMAIN and interacts with BETA 2-MICROGLOBULIN. It may also regulate the interaction of TRANSFERRIN with the TRANSFERRIN RECEPTOR. Mutations in the HFE gene are associated with cases of FAMILIAL HEMOCHROMATOSIS.

**Tree numbers:** - D09.400.430.890.489.200 - D12.776.395.550.489.200 - D12.776.543.550.439.200 - D23.050.301.500.100.363 - D23.050.705.552.100.375

**Synonyms:** - HFE Protein - HLA-H Antigen