An 18-aa peptide sequence within the C-terminus of rat HFE. Elemental iron is required for a variety of normal cellular functions and vital for proper growth and development. However, natural iron is quite insoluble and excess iron is harmful, since it can catalyze the formation of potentially damaging reactive oxygen species. Humans also have very limited capacity to excrete iron. Therefore, cells have developed mechanisms to improve solubility of iron and to control intracellular iron levels at the point of absorption in the intestine and other tissue. Several proteins including Ferritin, transferrin (Tf), transferrin receptors (TfRs), and iron regulatory proteins (IRPs), iron transporter (NRMAP2/DMT1/DCT1) etc play a key role in iron metabolism. Some genes involved in iron-metabolism are associated with genetic disorders such as Friedreichs Ataxia (Frataxin), genetic hemochromatosis (HFE), and Sex-linked anemia (Hephaestin). Hereditary hemochromatosis (HHC) is most common autosomal recessive disorder characterized by defective intestinal iron absorption, which lead to iron-overload in many tissues and toxic effects. The candidate gene for HHC encodes the HFE protein (formerly called HLA-H) resembling the major histocompatibility complex MHC class-1 molecule. HFE protein (mouse 359 aa, rat 360 aa, human 348 aa, ~48kD) is type I membrane protein. It is found in all tissues except brain. HFE protein binds too Tfr and reduces its affinity for iron-loaded Tf. The HFE Cys282-Tyr (C282Y) is homozygous in 83-100% of HHC subjects in the US and North Europe, and Australia. The C282Y mutation results in the loss of a structural disulfide bond in the alpha-3 domain of the protein, which prevents association with beta-2 microglobulin and proper presentation to the surface. Defects in HFE are also a cause of porphyria cutanes tarda (PCT), a disorder characterized by light-sensitive dermatitis and presence of large amounts of uroporphyrin in urine.
Purity:
Highly purified
Form:
Supplied as a liquid in PBS, pH 7.2
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