• This led investigators to the discovery of a gene polymorphism in the gene for ferroportin, which predisposes some people of African descent to iron overload. (wikipedia.org)
  • The SLC40A1 gene encodes for ferroportin. (wikipedia.org)
  • Some studies have indicated that a variation in the SLC40A1 gene increases the risk of developing increased iron stores in people of African descent. (medlineplus.gov)
  • The SLC40A1 gene provides instructions for making a protein called ferroportin. (medlineplus.gov)
  • Mutation c.744G → T (Q248H), located in exon 6 of the ferroportin gene SLC40A1, is found as a polymorphism in populations of African origin. (unl.pt)
  • An implication for copper-mediated regulation of the Slc40a1 gene expression. (bvsalud.org)
  • It results from an autosomal dominant mutation in the SLC40A1 gene and affects the ability of ferroportin to bind hepcidin. (msdmanuals.com)
  • Mutations in the gene encoding ferroportin 1, a cellular iron exporter, are responsible for this iron storage disease, inherited as an autosomal dominant trait. (intrinsiclifesciences.com)
  • utations in the human gene encoding ferroportin 1 (FPN1/IREG-1/MTP-1/SLC40A1) are associated with an unusual iron overload syndrome, recently named hemochromatosis type 4 or ferroportin disease. (intrinsiclifesciences.com)
  • Hepdicin exerts its biological function upon binding to the only known cellular iron exporter, ferroportin (SLC40A1), thereby leading to ferroportin internalization and degradation. (haematologica.org)
  • Hepcidin, which is expressed in the liver, heart, 16 and kidney, 17 is the key mediator of anemia of inflammation, 18,19 and synthetic hepcidin was shown to interact physically with ferroportin in a cellular overexpression system, causing internalization and degradation, and decreased export of iron. (intrinsiclifesciences.com)
  • Based on previous reports, we found that HAMP modulates cell proliferation through interaction with its receptor SLC40A1 . (biomedcentral.com)
  • These findings support the involvement of HAMP - SLC40A1 signaling in aberrant hepatocyte proliferation in the HCC microenvironment. (biomedcentral.com)
  • When iron is in excess, hepcidin/HAMP levels increase resulting in a degradation of ferroportin/SLC40A1 limiting the iron efflux to plasma (PubMed:22682227, PubMed:29237594, PubMed:32814342). (icr.ac.uk)
  • As the master regulator of iron homeostasis in the body, hepcidin acts by binding and degrading the transmembrane protein ferroportin to keep it from releasing too much iron into the bloodstream. (jillcarnahan.com)
  • Finally, macrophage iron storage in ferroportin disease is associated with elevated serum pro-hepcidin levels. (intrinsiclifesciences.com)
  • A mutation in SLC40A1 was detected in minority of African American and Native African with primary iron overload, but the ferroportin (Q248H) mutation was not found more regularly in Native southern Africans with dietary iron overload. (wikipedia.org)
  • Ferroportin SLC40A1 Q248H mutation in exon 6 occurs as a polymorphism in individuals of sub-Saharan African descent, but it was not identified in western Caucasians. (wikipedia.org)
  • Ferroportin Q248H mutation in African families with dietary iron overload showed lower mean cell volume and higher ferritin concentration. (wikipedia.org)
  • This combination can be observed in loss-of-function ferroportin mutation and in aceruloplasminemia. (wikipedia.org)
  • We present clinical, histopathological, and radiological findings in a family with the most common ferroportin mutation, V162del. (intrinsiclifesciences.com)
  • Within the phagocytes, iron is recycled through enzymatic degradation of heme and delivered via ferroportin into the circulation, accounting for approximately 90% of the daily iron needs. (haematologica.org)
  • 1 , 7 In addition, pro-and anti-inflammatory cytokines further contribute to iron retention within monocytes/macrophages by stimulating iron uptake pathways while inhibiting ferroportin transcription in these cells. (haematologica.org)
  • 2) a subset of macrophages expressing SLC40A1 and genes reacting to various infections is present in para-carcinoma but not in HCC tissue. (biomedcentral.com)
  • In addition, a subset of macrophages expressing SLC40A1 and genes reacting to various infections was absent in HCC tissue. (biomedcentral.com)
  • HSC express the iron-uptake protein TfR1, and the iron-export protein ferroportin. (westminster.ac.uk)
  • Moreover, studies have shown that SLC40A1 Q248H aggregate allele frequency is higher in Native Africans than the aggregate allele frequency in African Americans. (wikipedia.org)
  • SLC40A1 Q248H allele frequencies and associated SLC40A1 haplotypes in three West African population samples. (unl.pt)
  • http://www.ncbi.nlm.nih.gov/pubmed/?term=SLC40A1+Q248H+allele+frequencies+and+associated+SLC40A1+haplotypes+in+three+West+African+population+samples. (unl.pt)
  • Combination of excess iron and functional changes in ferroportin seems to be the probable cause. (wikipedia.org)
  • The probable cause of African iron overload is the combination of excess iron intake and functional changes in ferroportin. (wikipedia.org)
  • Ferroportin then transports iron from the small intestine into the bloodstream, and the iron is carried by the blood to the tissues and organs of the body. (medlineplus.gov)
  • Polymorphisms in SLC40A1 have recently been investigated in Americans of African descent. (wikipedia.org)
  • Hemochromatosis type 4 (also called ferroportin disease) is a disease in which too much iron builds up in the body. (nih.gov)
  • Type 1, the most common form of the disorder, and type 4 (also called ferroportin disease) begin in adulthood. (nih.gov)
  • 7. Age-dependent expression of duodenal cytochrome b, divalent metal transporter 1, ferroportin 1, and hephaestin in the duodenum of rats. (nih.gov)
  • SLC11A2 (divalent metal transporter 1, DMT1), SLC40A1 (ferroportin 1, Fpn1), and transferrin receptor-1 (TfR1), along with cytoplasmic iron storage protein ferritin H. Our results in 12 human culture cell lysates indicated that only unheated samples prior to gel loading gave rise to clear resolution of DMT1 protein, while heated samples (95°C, 5min) caused the loss of resolution due to DMT1 protein aggregates. (nih.gov)
  • Objectives: We evaluated the impact of iron homeostasis genes [divalent metal transporter 1 ( SLC11A2 ), transferrin ( TF ), transferrin receptors ( TFR2 and TFRC ), and ferroportin ( SLC40A1 )] on Cd accumulation. (nih.gov)
  • 6. Expression of Hepcidin and Ferroportin in the Placenta, and Ferritin and Transferrin Receptor 1 Levels in Maternal and Umbilical Cord Blood in Pregnant Women with and without Gestational Diabetes. (nih.gov)
  • a , Ferroportin effluxes cellular iron (Fe 2+ ) by an alternating access mechanism. (nature.com)
  • Transmembrane protein western blotting: Impact of sample preparation on detection of SLC11A2 (DMT1) and SLC40A1 (ferroportin). (nih.gov)
  • 9. Ferroportin-1 is a 'nuclear'-negative acute-phase protein in rat liver: a comparison with other iron-transport proteins. (nih.gov)
  • Moreover, studies have shown that SLC40A1 Q248H aggregate allele frequency is higher in Native Africans than the aggregate allele frequency in African Americans. (wikipedia.org)