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SLC40A1 Entrez Gene digest
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GeneRIFs
Solute carrier family 40 (iron-regulated transporter), member 1
Entrez Gene GeneRIFs are recent publications from the PubMed® catalog that contain relevant information about SLC40A1.
Altès A, Bach V, Ruiz A, Esteve A, Remacha AF, Sardà MP, Felez J, Baiget M. Does the SLC40A1 gene modify HFE-related haemochromatosis phenotypes? Ann Hematol. 2008 Sep 27; [Epub ahead of print].
PubMed citation
Barton JC, Acton RT, Lee PL, West C. SLC40A1 Q248H allele frequencies and Q248H-associated risk of non-HFE iron overload in persons of sub-Saharan African descent. Blood Cells Mol Dis. 2007 Sep-Oct;39(2):206-11. Epub 2007 May 9.
PubMed citation
Barton JC, Acton RT, Lee PL, West C. SLC40A1 Q248H allele frequencies and Q248H-associated risk of non-HFE iron overload in persons of sub-Saharan African descent. Blood Cells Mol Dis. 2007 Sep-Oct;39(2):206-11. Epub 2007 May 9.
PubMed citation
Beutler E, Barton JC, Felitti VJ, Gelbart T, West C, Lee PL, Waalen J, Vulpe C. Ferroportin 1 (SCL40A1) variant associated with iron overload in African-Americans. Blood Cells Mol Dis. 2003 Nov-Dec;31(3):305-9.
PubMed citation
Cianetti L, Segnalini P, Calzolari A, Morsilli O, Felicetti F, Ramoni C, Gabbianelli M, Testa U, Sposi NM. Expression of alternative transcripts of ferroportin-1 during human erythroid differentiation. Haematologica. 2005 Dec;90(12):1595-606.
PubMed citation
De Domenico I, McVey Ward D, Nemeth E, Ganz T, Corradini E, Ferrara F, Musci G, Pietrangelo A, Kaplan J. Molecular and clinical correlates in iron overload associated with mutations in ferroportin. Haematologica. 2006 Aug;91(8):1092-5.
PubMed citation
De Domenico I, Nemeth E, Nelson JM, Phillips JD, Ajioka RS, Kay MS, Kushner JP, Ganz T, Ward DM, Kaplan J. The hepcidin-binding site on ferroportin is evolutionarily conserved. Cell Metab. 2008 Aug;8(2):146-56.
PubMed citation
De Domenico I, Ward DM, Langelier C, Vaughn MB, Nemeth E, Sundquist WI, Ganz T, Musci G, Kaplan J. The molecular mechanism of hepcidin-mediated ferroportin down-regulation. Mol Biol Cell. 2007 Jul;18(7):2569-78. Epub 2007 May 2.
PubMed citation
De Domenico I, Ward DM, Nemeth E, Vaughn MB, Musci G, Ganz T, Kaplan J. The molecular basis of ferroportin-linked hemochromatosis. Proc Natl Acad Sci U S A. 2005 Jun 21;102(25):8955-60. Epub 2005 Jun 13.
PubMed citation
Devalia V, Carter K, Walker AP, Perkins SJ, Worwood M, May A, Dooley JS. Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3). Blood. 2002 Jul 15;100(2):695-7.
PubMed citation
Drakesmith H, Schimanski LM, Ormerod E, Merryweather-Clarke AT, Viprakasit V, Edwards JP, Sweetland E, Bastin JM, Cowley D, Chinthammitr Y, Robson KJ, Townsend AR. Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin. Blood. 2005 Aug 1;106(3):1092-7. Epub 2005 Apr 14.
PubMed citation
Gordeuk VR, Caleffi A, Corradini E, Ferrara F, Jones RA, Castro O, Onyekwere O, Kittles R, Pignatti E, Montosi G, Garuti C, Gangaidzo IT, Gomo ZA, Moyo VM, Rouault TA, MacPhail P, Pietrangelo A. Iron overload in Africans and African-Americans and a common mutation in the SCL40A1 (ferroportin 1) gene. Blood Cells Mol Dis. 2003 Nov-Dec;31(3):299-304.
PubMed citation
Han O, Kim EY. Colocalization of ferroportin-1 with hephaestin on the basolateral membrane of human intestinal absorptive cells. J Cell Biochem. 2007 Jul 1;101(4):1000-10.
PubMed citation
Hetet G, Devaux I, Soufir N, Grandchamp B, Beaumont C. Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations. Blood. 2003 Sep 1;102(5):1904-10. Epub 2003 May 1.
PubMed citation
Kohgo Y. A novel ferroportin disease in a Japanese patient. Intern Med. 2005 May;44(5):393-4. No abstract available.
PubMed citation
Lee PL, Gelbart T, West C, Barton JC. SLC40A1 c.1402G-->a results in aberrant splicing, ferroportin truncation after glycine 330, and an autosomal dominant hemochromatosis phenotype. Acta Haematol. 2007;118(4):237-41. Epub 2007 Dec 21.
PubMed citation
Lee PL, Gelbart T, West C, Halloran C, Felitti V, Beutler E. A study of genes that may modulate the expression of hereditary hemochromatosis: transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2, and hepcidin. Blood Cells Mol Dis. 2001 Sep-Oct;27(5):783-802.
PubMed citation
Lim FL, Dooley JS, Roques AW, Grellier L, Dhillon AP, Walker AP. Hepatic iron concentration, fibrosis and response to venesection associated with the A77D and V162del "loss of function" mutations in ferroportin disease. Blood Cells Mol Dis. 2008 May-Jun;40(3):328-33. Epub 2007 Dec 21.
PubMed citation
Liu W, Shimomura S, Imanishi H, Iwamoto Y, Ikeda N, Saito M, Ohno M, Hara N, Yamamoto T, Nakamura H, Hada T. Hemochromatosis with mutation of the ferroportin 1 (IREG1) gene. Intern Med. 2005 Apr;44(4):285-9.
PubMed citation
Liu XB, Yang F, Haile DJ. Functional consequences of ferroportin 1 mutations. Blood Cells Mol Dis. 2005 Jul-Aug;35(1):33-46.
PubMed citation
Li YQ, Yan H, Bai B. Change in iron transporter expression in human term placenta with different maternal iron status. Eur J Obstet Gynecol Reprod Biol. 2008 Sep;140(1):48-54. Epub 2008 Jun 30.
PubMed citation
Milet J, Dehais V, Bourgain C, Jouanolle AM, Mosser A, Perrin M, Morcet J, Brissot P, David V, Deugnier Y, Mosser J. Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance. Am J Hum Genet. 2007 Oct;81(4):799-807. Epub 2007 Aug 31.
PubMed citation
Montosi G, Donovan A, Totaro A, Garuti C, Pignatti E, Cassanelli S, Trenor CC, Gasparini P, Andrews NC, Pietrangelo A. Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. J Clin Invest. 2001 Aug;108(4):619-23.
PubMed citation
Nemeth E, Tuttle MS, Powelson J, Vaughn MB, Donovan A, Ward DM, Ganz T, Kaplan J. Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization. Science. 2004 Dec 17;306(5704):2090-3. Epub 2004 Oct 28.
PubMed citation
Nguyen NB, Callaghan KD, Ghio AJ, Haile DJ, Yang F. Hepcidin expression and iron transport in alveolar macrophages. Am J Physiol Lung Cell Mol Physiol. 2006 Sep;291(3):L417-25. Epub 2006 Apr 28.
PubMed citation
Pelucchi S, Mariani R, Salvioni A, Bonfadini S, Riva A, Bertola F, Trombini P, Piperno A. Novel mutations of the ferroportin gene (SLC40A1): analysis of 56 consecutive patients with unexplained iron overload. Clin Genet. 2008 Feb;73(2):171-8. Epub 2007 Dec 27.
PubMed citation
Pietrangelo A. The ferroportin disease. Blood Cells Mol Dis. 2004 Jan-Feb;32(1):131-8. Review.
PubMed citation
Politou M, Kalotychou V, Pissia M, Rombos Y, Sakellaropoulos N, Papanikolaou G. The impact of the mutations of the HFE gene and of the SLC11A3 gene on iron overload in Greek thalassemia intermedia and beta(s)/beta(thal) anemia patients. Haematologica. 2004 Apr;89(4):490-2.
PubMed citation
Press RD. Hemochromatosis caused by mutations in the iron-regulatory proteins ferroportin and H ferritin. Mol Diagn. 2001 Dec;6(4):347. No abstract available.
PubMed citation
Rivers CA, Barton JC, Gordeuk VR, Acton RT, Speechley MR, Snively BM, Leiendecker-Foster C, Press RD, Adams PC, McLaren GD, Dawkins FW, McLaren CE, Reboussin DM. Association of ferroportin Q248H polymorphism with elevated levels of serum ferritin in African Americans in the Hemochromatosis and Iron Overload Screening (HEIRS) Study. Blood Cells Mol Dis. 2007 May-Jun;38(3):247-52. Epub 2007 Feb 5.
PubMed citation
Rolfs A, Bonkovsky HL, Kohlroser JG, McNeal K, Sharma A, Berger UV, Hediger MA. Intestinal expression of genes involved in iron absorption in humans. Am J Physiol Gastrointest Liver Physiol. 2002 Apr;282(4):G598-607.
PubMed citation
Schimanski LM, Drakesmith H, Merryweather-Clarke AT, Viprakasit V, Edwards JP, Sweetland E, Bastin JM, Cowley D, Chinthammitr Y, Robson KJ, Townsend AR. In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations. Blood. 2005 May 15;105(10):4096-102. Epub 2005 Feb 3.
PubMed citation
Sham RL, Phatak PD, West C, Lee P, Andrews C, Beutler E. Autosomal dominant hereditary hemochromatosis associated with a novel ferroportin mutation and unique clinical features. Blood Cells Mol Dis. 2005 Mar-Apr;34(2):157-61.
PubMed citation
Speletas M, Kioumi A, Loules G, Hytiroglou P, Tsitouridis J, Christakis J, Germenis AE. Analysis of SLC40A1 gene at the mRNA level reveals rapidly the causative mutations in patients with hereditary hemochromatosis type IV. Blood Cells Mol Dis. 2008 May-Jun;40(3):353-9. Epub 2007 Nov 9.
PubMed citation
Stuart KA, Anderson GJ, Frazer DM, Murphy TL, Powell LW, Fletcher LM, Crawford DH. Increased duodenal expression of divalent metal transporter 1 and iron-regulated gene 1 in cirrhosis. Hepatology. 2004 Feb;39(2):492-9.
PubMed citation
Wallace DF, Dixon JL, Ramm GA, Anderson GJ, Powell LW, Subramaniam VN. A novel mutation in ferroportin implicated in iron overload. J Hepatol. 2007 May;46(5):921-6. Epub 2007 Feb 28.
PubMed citation
Yang F, Wang X, Haile DJ, Piantadosi CA, Ghio AJ. Iron increases expression of iron-export protein MTP1 in lung cells. Am J Physiol Lung Cell Mol Physiol. 2002 Nov;283(5):L932-9.
PubMed citation
Zaahl MG, Merryweather-Clarke AT, Kotze MJ, van der Merwe S, Warnich L, Robson KJ. Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload. Hum Genet. 2004 Oct;115(5):409-17. Epub 2004 Aug 24.
PubMed citation
Published: February 6, 2009