Transferrin receptor protein 2 (TfR2) is a protein involved in the transport and delivery of iron to the liver and other tissues. In humans, this protein is coded by the TFR2 gene mapped on chromosome 7q22. This gene gives origin to 2 alternatively spliced transcripts: (1) alpha-transcripts that encode a transmembrane protein and (2) beta-transcripts, which is a shorter intracellular variant. As for the biological function, TfR2 mediates cellular uptakes of transferrin-bound iron in a non-iron dependent manner. Thus, this protein is implicated in iron metabolism, hepatocyte function, and erythrocyte differentiation. TfR2 helps sense and control iron storage levels in the body by calculating the height of another protein, hepcidin, that determines how much iron is riveted from the diet and out from the storage sites in the body. It is associated with iron overload and tenders a tool for molecular diagnosis without HFE mutations. With regard to genetics, mutations involving the TFR2 gene are responsible for the hereditary hemochromatosis. It is an iron metabolic disorder characterized by iron overload resulting from C282Y homozygosity in the HFE gene on chromosome 6p. Other TFR2 mutations may result in incorrect amino acid sequence of TfR2 protein, and as a result, will be unable to regulate importation of iron into the cells. It also contributes to low-level hepcidin in the body, which in turn, leads to iron accumulation. In the liver, high levels of iron from lack of proper metabolism could lead to organ malfunction. Abbreviation: TfR2.
- TFR2 transferrin receptor 2 sapiens (human) – Gene – NCBI. (2019). Retrieved from Nih.gov website: https://www.ncbi.nlm.nih.gov/gene/7036
- Genetics Home Reference. (2018). TFR2 gene. Retrieved from Genetics Home Reference website: https://ghr.nlm.nih.gov/gene/TFR2
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