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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.
If TIBC values are known, the transferrin concentration can be estimated with the following formulas: [2] Transferrin (mg/dL) = 0.8 x TIBC (μg of iron/dL) – 43; Transferrin (mg/dL) = 0.7 x TIBC (μg of iron/dL) To measure TIBC in the blood is less expensive than a direct measurement of transferrin. [4] [5]
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 .
It is thought that this protein functions to regulate circulating iron uptake by regulating the interaction of the transferrin receptor with transferrin. [6] The HFE gene contains 7 exons spanning 12 kb. [7] The full-length transcript represents 6 exons. [8] HFE protein is composed of 343 amino acids. There are several components, in sequence ...
Transferrin saturation (TS), measured as a percentage, is a medical laboratory value. It is the value of serum iron divided by the total iron-binding capacity [ 1 ] of the available transferrin , the main protein that binds iron in the blood, this value tells a clinician how much serum iron is bound.
Most well-nourished people in industrialized countries have 4 to 5 grams of iron in their bodies (~38 mg iron/kg body weight for women and ~50 mg iron/kg body for men). [7] Of this, about 2.5 g is contained in the hemoglobin needed to carry oxygen through the blood (around 0.5 mg of iron per mL of blood), [8] and most of the rest (approximately ...
Iron overload (also known as haemochromatosis or hemochromatosis) is the abnormal and increased accumulation of total iron in the body, leading to organ damage. [1] The primary mechanism of organ damage is oxidative stress, as elevated intracellular iron levels increase free radical formation via the Fenton reaction.