Hemochromatosis: hereditary hemochromatosis and HFE gene

MS Katsarou, M Papasavva, R Latsi, N Drakoulis - Vitamins and hormones, 2019 - Elsevier
… beta-2-microglobulin and this interaction is essential … HFE hemochromatosis. Pathogenic
variants of TFR2 gene, which encodes the transferrin receptor 2, cause this type of hereditary

Transferrin and transferrin receptors update

H Kawabata - Free Radical Biology and Medicine, 2019 - Elsevier
… TfR2 forms a complex with hemochromatosis protein, HFE, and … systemic iron overload,
hemochromatosis, through down-… Thus, TfR1 can interact with two iron-carrier proteins with …

The impact of hereditary hemochromatosis on the expression of iron regulatory proteins in platelets

HM Finnbogadóttir - skemman.is
… that gene expression of HFE, transferrin receptor 1 (TfRC) and transferrin receptor 2 (TfR2)
on … loaded transferrin for the binding to the transferrin receptor, but it does not just interact with …

Transferrin receptor 1: keeper of HFE

NL Parrow, RE Fleming - Blood, The Journal of the American …, 2023 - ashpublications.org
HFE. Studies directed instead to examining the functional consequences of this interaction
on HFE … by which the interaction of HFE with TFR1 prevents HFE from otherwise exerting an …

[HTML][HTML] New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis

G Hernández, X Ferrer-Cortès, V Venturi, M Musri… - Genes, 2021 - mdpi.com
… binding of the transferrin protein (TF) with the Transferrin Receptor 1 (TFR1) protein (responsible …
The TF-TFR1 binding displaces the HFE protein that then is free to interact with TFR2 to …

A rare variant on a common risk haplotype of HFE causes increased risk of hereditary hemochromatosis

AM Glazer, L Bastarache, L Hall, L Short, T Shields… - bioRxiv, 2019 - biorxiv.org
HFE binds the extracellular domain of Transferrin Receptor 1 (TfR1), reducing the affinity of
TfR1 for transferrin… that HFE E168 was at the interface of the HFE-TfR1 interaction and made …

[HTML][HTML] Inherited iron overload disorders

A Piperno, S Pelucchi, R Mariani - Translational gastroenterology …, 2020 - ncbi.nlm.nih.gov
… that the hemochromatosis proteins [HFE, transferrin receptor 2 (TFR2) … Patients affected by
hemochromatosis type-1, -2, -3 have a … interactions with diferric transferrin (Tf-Fe2), transferrin

Hemochromatosis

NV Bergasa - Clinical Cases in Hepatology, 2022 - Springer
… The hepatocytes also express transferrin receptor 2 (TFR2); however, its affinity for … highly
saturated transferrin stabilizes TfR2, disrupting the interaction between the HFE protein and …

[HTML][HTML] Primary Non-HFE hemochromatosis: a review

A Turshudzhyan, DC Wu, GY Wu - Journal of Clinical and …, 2023 - ncbi.nlm.nih.gov
HFE interacts with transferrin receptor 2 (TFR2), leading to increased stabilization and activation
of bone morphogenic proteininteraction of the iron-transferrin complex with its receptor, …

[HTML][HTML] Hereditary hemochromatosis associated with the development of liver cirrhosis

TS Costa, JM Ferreira, MF Couto… - Jornal Brasileiro de …, 2021 - SciELO Brasil
… affinity when compared to the HFE-TfR1 interaction 20 20 Delima RD, Chua ACG, Tirnitz-Parker
JEE, et al. Disruption of hemochromatosis protein and transferrin receptor 2 causes iron-…