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Ferroportin-1, also known as solute carrier family 40 member 1 (SLC40A1) or iron-regulated transporter 1 (IREG1), is a protein that in humans is encoded by the SLC40A1 gene. [5] Ferroportin is a transmembrane protein that transports iron from the inside of a cell to the outside of the cell. Ferroportin is the only known iron exporter. [6]
Type 4 hemochromatosis is caused by mutations of the SLC40A1 gene, located on the long arm of chromosome 2, specifically at 2q32.2. The SLC40A1 gene encodes ferroportin, a protein responsible for exporting iron from cells in the intestine, liver, spleen, and kidney, as well as from reticuloendothelial macrophages and the placenta.
Hephaestin, a ferroxidase that can oxidize Fe 2+ to Fe 3+ and is found mainly in the small intestine, helps ferroportin transfer iron across the basolateral end of the intestine cells. Upon release into the bloodstream, Fe 3+ binds transferrin and circulates to tissues.
Hephaestin, a ferroxidase that can oxidize Fe 2+ to Fe 3+ and is found mainly in the small intestine, helps ferroportin transfer iron across the basolateral end of the intestine cells. In contrast, ferroportin is post-translationally repressed by hepcidin, a 25-amino acid peptide hormone. The body regulates iron levels by regulating each of ...
Transferrin receptor 2 (TfR2) is a protein that in humans is encoded by the TFR2 gene. [ 5 ] [ 6 ] This protein is involved in the uptake of transferrin -bound iron into cells by endocytosis , although its role is minor compared to transferrin receptor 1 .
Hepcidin is a protein that in humans is encoded by the HAMP gene. Hepcidin is a key regulator of the entry of iron into the circulation in mammals. [6]During conditions in which the hepcidin level is abnormally high, such as inflammation, serum iron falls due to iron trapping within macrophages and liver cells and decreased gut iron absorption.
Fasting transferrin saturation is a better test to detect HH. [14] [55] Transferrin saturation greater than 62% is suggestive of homozygosity for mutations in the HFE gene. [56] Ferritin, a protein synthesized by the liver, is the primary form of iron storage within cells and tissues.
It means that transferrin has the capacity to transport approximately from 1.40 to 1.49 mg of iron per gram of transferrin present in the blood. [2] It is performed by drawing blood and measuring the maximum amount of iron that it can carry, which indirectly measures transferrin [3] since transferrin is the