• Individuals with this disease exhibit a mutation in either both copies of the TFR2 or as compound heterozygotes (two mutations with one mutation in TFR2 and one in HFE). (mdwiki.org)
  • People with only one copy of TFR2 that is mutated and no mutations in HFE are labeled as carriers . (mdwiki.org)
  • Transferrin receptor 2 (TfR2) is a protein that in humans is encoded by the TFR2 gene. (wikipedia.org)
  • 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. (wikipedia.org)
  • This gene is a member of the transferrin receptor-like family and encodes a single-pass type II membrane protein with a protease associated (PA) domain, an M28 peptidase domain and a transferrin receptor-like dimerization domain. (wikipedia.org)
  • Kada transferinski protein napunjen gvožđem naiđe na transferinski receptor na površini ćelije , npr. (wikipedia.org)
  • When the HFE protein is attached to a protein called transferrin receptor 1, the receptor cannot bind to a protein called transferrin. (mdwiki.org)
  • So, it is likely that the HFE protein regulates iron levels in liver cells by preventing transferrin from binding to transferrin receptor 1. (mdwiki.org)
  • When the HFE protein is not bound to transferrin receptor 1, it binds to a group of other proteins that includes hepcidin. (mdwiki.org)
  • STAB1 and STAB2, encoding scavenger receptors involved in plasma protein clearance, emerged as pleiotropic loci, with 77 and 41 protein associations, respectively. (bvsalud.org)
  • Thus, some people with pathogenic variants of the TFR2 gene may never present symptoms related to the disease. (mdwiki.org)
  • [18] The N- and C- terminal sequences are represented by globular lobes and between the two lobes is an iron-binding site. (wikipedia.org)
  • The most commonly used test to identify persons at risk of developing iron overload disease is the percent transferrin saturation (TS) ( 1 ). (cdc.gov)
  • Furthermore, patients with non-hemochromatotic liver diseases, such as alcoholic liver disease, chronic hepatitis C or nonalcoholic steatohepatitis, often exhibit elevated serum iron indices (ferritin, transferrin saturation) and mild to moderate hepatic iron overload. (wjgnet.com)
  • 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. (wikipedia.org)
  • Transferrin receptor (TfR) plays a major role in cellular iron uptake through binding and internalizing a carrier protein transferrin (Tf). (nih.gov)
  • 4. Effects of cell proliferation on the uptake of transferrin-bound iron by human hepatoma cells. (nih.gov)
  • 12. The role of transferrin receptor 1 and 2 in transferrin-bound iron uptake in human hepatoma cells. (nih.gov)
  • The diagnosis of TFR2- HHC is established in a proband by identification of biallelic pathogenic variants in TFR2 on molecular genetic testing . (nih.gov)
  • 1999). "Molecular cloning of transferrin receptor 2. (wikipedia.org)
  • 7. TfR2 expression in human colon carcinomas. (nih.gov)
  • These cells showed an increase in biotinylated Tf binding to the cell surface, which was competed by nonlabeled Tf, but not by lactoferrin. (nih.gov)
  • 1. Regulation of transferrin receptor 2 in human cancer cell lines. (nih.gov)
  • 2. Transferrin receptor 2 is frequently expressed in human cancer cell lines. (nih.gov)
  • 19. Inhibition of transferrin receptor 1 transcription by a cell density response element. (nih.gov)
  • This method led to the discovery of an anti-transferrin receptor nanobody that is able to deliver a biologically active peptide to the brain via receptor-mediated transcytosis. (biomedcentral.com)
  • One theory is that mutated HFE undergoes a conformational change in its structure that prevents the transferrin receptor from entering the hepatocyte. (medscape.com)