Iron-regulated transporter
The SLC40A1 gene encodes a transport protein located in the basolateral membrane of enterocytes. It is responsible for transfer of absorbed iron into the bloodstream. Mutations cause autosomal dominant hemochromatosis 4.
Genetests:
Related Diseases:
References:
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Njajou OT et al. (2001) A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis.
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2. |
Nairz M et al. (2013) Nitric oxide-mediated regulation of ferroportin-1 controls macrophage iron homeostasis and immune function in Salmonella infection.
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3. |
Sangokoya C et al. (2013) Iron-responsive miR-485-3p regulates cellular iron homeostasis by targeting ferroportin.
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4. |
Zohn IE et al. (2007) The flatiron mutation in mouse ferroportin acts as a dominant negative to cause ferroportin disease.
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5. |
Agarwal S et al. (2006) Ferroportin (SLC40A1) gene in thalassemic patients of Indian descent.
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6. |
Donovan A et al. (2005) The iron exporter ferroportin/Slc40a1 is essential for iron homeostasis.
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7. |
Nemeth E et al. (2004) Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization.
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8. |
Hetet G et al. (2003) Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations.
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9. |
Cazzola M et al. (2002) Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3).
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10. |
Roetto A et al. (2002) A valine deletion of ferroportin 1: a common mutation in hemochromastosis type 4.
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11. |
Devalia V et al. (2002) Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3).
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12. |
Wallace DF et al. (2002) Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis.
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13. |
Fleming RE et al. (2001) Ferroportin mutation in autosomal dominant hemochromatosis: loss of function, gain in understanding.
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14. |
McKie AT et al. (2000) A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation.
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15. |
None (2000) Assignment of Slc11a3 to mouse chromosome 1 band 1B and SLC11A3 to human chromosome 2q32 by in situ hybridization.
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16. |
Donovan A et al. (2000) Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter.
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17. |
Cremonesi L et al. (2005) Genetic and clinical heterogeneity of ferroportin disease.
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18. |
De Domenico I et al. (2005) The molecular basis of ferroportin-linked hemochromatosis.
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19. |
Montosi G et al. (2001) Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene.
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20. |
Pietrangelo A et al. (1999) Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene.
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21. |
NCBI article
NCBI 30061
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22. |
OMIM.ORG article
Omim 604653
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23. |
Orphanet article
Orphanet ID 119486
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24. |
Wikipedia article
Wikipedia EN (Ferroportin)
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Update: Aug. 14, 2020