Hereditary Hemochromatosis Protein
Hereditary Hemochromatosis Protein | ||
---|---|---|
Properties of human protein | ||
Mass / length primary structure | 326 amino acids | |
Secondary to quaternary structure | single pass membrane receptor | |
Isoforms | 10 | |
Identifier | ||
Gene name | HFE | |
External IDs | ||
Occurrence | ||
Parent taxon | Mammals |
The HFE (HFE protein) ( gene -Name: HFE ; H igh Iron Fe ) is a protein in the cell membrane of mammals , that the transferrin receptor 2 binds and leads that the transferrin easier by this dissociated, i.e. being less bound. This interaction is necessary for the transferrin-induced expression of hepcidin . The protein thus plays a central role in iron metabolism .
In humans, HFE protein is made everywhere except in the brain. Mutations in the HFE gene can lead to hereditary hemochromatosis , the most common recessive hereditary disease in Europeans , but also to porphyria cutanea tarda or an increased risk of diabetic nephropathy . Structurally, the protein is closely related to the MHC I proteins.
further reading
- Pantopoulos K: Function of the hemochromatosis protein HFE: Lessons from animal models . In: World J. Gastroenterol. . 14, No. 45, December 2008, pp. 6893-901. doi : 10.3748 / year 14.6893 . PMID 19058322 . PMC 2773850 (free full text).
Individual evidence
- ↑ Homologues at OMA
- ↑ a b UniProt Q30201
- ↑ Alexander J, Kowdley KV: HFE-associated hereditary hemochromatosis . In: Genet. Med. . 11, No. 5, May 2009, pp. 307-13. doi : 10.1097 / GIM.0b013e31819d30f2 . PMID 19444013 .
- ↑ Gao J, Chen J, Kramer M, Tsukamoto H, Zhang AS, Enns CA: Interaction of the hereditary hemochromatosis protein HFE with transferrin receptor 2 is required for transferrin-induced hepcidin expression . In: Cell Metab. . 9, No. 3, March 2009, pp. 217-27. doi : 10.1016 / j.cmet.2009.01.010 . PMID 19254567 .