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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:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Hemochromatosis 4
SLC40A1

References:

1.

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 external link
22.

OMIM.ORG article

Omim 604653 external link
23.

Orphanet article

Orphanet ID 119486 external link
24.

Wikipedia article

Wikipedia EN (Ferroportin) external link
Update: Aug. 14, 2020
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