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erythroid Tfr2 is essential for an appropriate erythropoietic response in iron-deficient anemia
These studies further elucidate the role of TFR2 in the regulation of iron homeostasis and its role in regulation of ferroportin (show SLC40A1 Proteins) and thus macrophage iron homeostasis
Tfr2 is a novel target gene for HNF4alpha (show HNF4A Proteins), and hepatic HNF4alpha (show HNF4A Proteins) plays a critical role in iron homeostasis.
There is an essential role for TFR2 in erythropoiesis that may provide new targets for the treatment of anaemia.
We suggest that Tfr2 is a component of a novel iron-sensing mechanism that adjusts erythrocyte production according to iron availability, likely by modulating the erythroblast Epo (show EPO Proteins) sensitivity.
We propose that TFR2 is a limiting factor for erythropoiesis, particularly in conditions of iron restriction.
These results support in vivo studies which suggest that Hfe (show HFE Proteins) and Tfr2 can independently regulate hepcidin (show HAMP Proteins).
we used microarray and real-time reverse transcription polymerase chain reaction to assess brain transcriptome profiles of transferrin receptor 2 mutant mice a model of a rare type of hereditary hemochromatosis (show HFE Proteins)
Double mutant mice lacking functional Hfe (show HFE Proteins) or Tfr2 and Tmprss6 (show TMPRSS6 Proteins) exhibited a severe iron deficiency microcytic anemia phenotype mimicking the phenotype of single mutant mice lacking functional Tmprss6 (show TMPRSS6 Proteins) demonstrating that Hfe (show HFE Proteins) and Tfr2 are not substrates for Tmprss6 (show TMPRSS6 Proteins).
Disruption of both Hfe (show HFE Proteins) and Tfr2 caused more severe hepatic iron overload with more advanced lipid peroxidation, inflammation, and portal fibrosis than was observed with the disruption of either gene alone.
unreported iron metabolism-related genes in non-classic hereditary hemochromatosis (show HFE Proteins) patients that were predicted to be potentially pathogenic were three novel mutations in TFR2 [two missense (p.Leu750Pro and p.Ala777Val) and one intronic splicing mutation (c.967-1G>C)], one missense mutation in HFE (show HFE Proteins) (p.Tyr230Cys), and one mutation in the 5'-UTR of HAMP (show HAMP Proteins) gene (c.-25G>A)
TFR2 expression altered within 4h of HAMP (show HAMP Proteins) treatment, while HFE (show HFE Proteins) expression altered later at 24h and 48h, suggesting that TFR2 may function prior to HFE (show HFE Proteins) in HAMP (show HAMP Proteins) regulation.
Of the non-HFE (show HFE Proteins) forms of iron overload, TFR2-, HFE2 (show HFE2 Proteins)-, and HAMP (show HAMP Proteins)-related forms are predicted to be rare, with pathogenic allele frequencies in the range of 0.00007 to 0.0005. Significantly, SLC40A1 (show SLC40A1 Proteins) variants that have been previously associated with autosomal-dominant ferroportin (show SLC40A1 Proteins) disease were identified in several populations (pathogenic allele frequency 0.0004), being most prevalent among Africans
Transferrin (show Tf Proteins) facilitates the formation of DNA double-strand breaks (DNA-DSBs) via transferrin receptor TfR1 but not TfR2.
In line with a status of iron deficiency, gene expression studies suggested decreased expression of transferrin (show Tf Proteins) and transferrin receptor 2 in non-alcoholic steatohepatitis livers
Our results indicate that membrane transferrin receptor-2, a sensor of circulating iron, is released from the cell membrane in iron deficiency.
results suggest that down-regulation of CD81 (show CD81 Proteins) by GRAIL (show RNF128 Proteins) targets TfR2 for degradation
Polymorphisms of the TRF2 (show TERF2 Proteins) gene may be associated with age-related macular degeneration occurrence, either directly or by modulation of risk factors.
The variants of rs2075674 and rs7385804 in TFR2 gene were not associated with coronary heart disease risk in a Chinese Han population.
Present findings support the hypothesis of a main role of the TFR2 gene in HH pathogenesis in those regions, such as Central-Southern Italy, where the p.C282Y frequency is low.
One novel SNPs was identified in TFR2 which tended to be associated (P < 0.013) with skeletal muscle iron content.
TfR2 is coexpressed with transferrin-a (show Tf Proteins) in the liver of the zebrafish embryo. Knockdown of TfR2 fails to produce anemia or a morphologic defect.
This gene encodes a single-pass type II membrane protein, which is a member of the transferrin receptor-like family. This protein mediates cellular uptake of transferrin-bound iron, and may be involved in iron metabolism, hepatocyte function and erythrocyte differentiation. Mutations in this gene have been associated with hereditary hemochromatosis type III. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.
transferrin receptor 2
, transferrin receptor protein 2-like
, transferrin receptor protein 2