WebSLC40A1; ferroportin; iron overload; non-HFE; ferritin; hemochromatosis 1. Introduction Hereditary hemochromatosis (HH) type 4 or ferroportin disease (OMIM-code: 606069 Orphanet-code: 139491) is associated with variants in SLC40A1 and inherited in an autosomal-dominant manner. WebNov 3, 2015 · export: ferroportin (SLC40A1, also referred to in the literature as FPN1, MTP1 and IREG1). Moreover, ferroportin is also used to export stored iron from hepatocytes and to release maternal iron from the placenta to the fetal circulation. Three groups (Abboud and Haile, 2000; Donovan et al., 2000; McKie et al., 2000) independently
Hemochromatosis Choose the Right Test - ARUP Consult
WebThe non-heme transporter is the divalent mineral transporter 1 (DMT1), which transports Fe2+ into the enterocyte. Heme iron is taken up through heme carrier protein 1 (HCP-1), and then metabolized to Fe2+. Fe2+ … WebMar 21, 2024 · SLC40A1 (Solute Carrier Family 40 Member 1) is a Protein Coding gene. Diseases associated with SLC40A1 include Hemochromatosis, Type 4 and Hemochromatosis, Type 1 . Among its … star trek michael burnham
Ferroportin Disease - NORD (National Organization for Rare Disorders)
WebFerroportin-IN-1 is a ferroportin inhibitor extracted from patent WO2024123850A1 compound 23. Ferroportin-IN-1 can be used for the research of diseases caused by a … WebIron is essential for life. Many enzymes require iron for appropriate function. However, dysregulation of intracellular iron homeostasis produces excessive reactive oxygen species (ROS) via the Fenton reaction and causes devastating effects on cells, leading to ferroptosis, an iron-dependent cell death. In order to protect against harmful effects, the … WebSep 29, 2024 · Mutations in the ferroportin (FPN) gene SLC40A1 alter iron recycling and cause disturbances in iron homeostasis. The variants of TMPRSS6 contribute to the development of iron deficiencies. In this study, we determined the role of FPN and TMPRSS6 gene polymorphisms in the modulation of iron homeostasis based on … star trek medical ships